Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targ...

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Published in	American journal of human genetics Vol. 94; no. 5; pp. 649 - 661
Main Authors	Vulto-van Silfhout, Anneke T., Rajamanickam, Shivakumar, Jensik, Philip J., Vergult, Sarah, de Rocker, Nina, Newhall, Kathryn J., Raghavan, Ramya, Reardon, Sara N., Jarrett, Kelsey, McIntyre, Tara, Bulinski, Joseph, Ownby, Stacy L., Huggenvik, Jodi I., McKnight, G. Stanley, Rose, Gregory M., Cai, Xiang, Willaert, Andy, Zweier, Christiane, Endele, Sabine, de Ligt, Joep, van Bon, Bregje W.M., Lugtenberg, Dorien, de Vries, Petra F., Veltman, Joris A., van Bokhoven, Hans, Brunner, Han G., Rauch, Anita, de Brouwer, Arjan P.M., Carvill, Gemma L., Hoischen, Alexander, Mefford, Heather C., Eichler, Evan E., Vissers, Lisenka E.L.M., Menten, Björn, Collard, Michael W., de Vries, Bert B.A.
Format	Journal Article
Language	English
Published	United States Elsevier Inc 01.05.2014 Cell Press Elsevier
Subjects	Amino Acid Sequence Amino acids Animals Child Cohort Studies DNA Mutational Analysis Female Genotype & phenotype Humans Intellectual Disability - genetics Learning disabilities Male Memory Mental Disorders - genetics Mice Mice, Knockout Molecular Sequence Data Mutation Nuclear Proteins - genetics Protein Structure, Tertiary - genetics Speech Disorders - genetics Transcription Factors
Online Access	Get full text
ISSN	0002-9297 1537-6605 1537-6605
DOI	10.1016/j.ajhg.2014.03.013

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Abstract	Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
AbstractList	Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. [PUBLICATION ABSTRACT] Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1 , which encodes a transcription factor with an important role in embryonic development. To ascertain whether these mutations in DEAF1 are causative for the ID phenotype, we performed targeted resequencing of DEAF1 in an additional cohort of over 2,300 individuals with unexplained ID and identified two additional individuals with de novo mutations in this gene. All four individuals had severe ID with severely affected speech development, and three showed severe behavioral problems. DEAF1 is highly expressed in the CNS, especially during early embryonic development. All four mutations were missense mutations affecting the SAND domain of DEAF1. Altered DEAF1 harboring any of the four amino acid changes showed impaired transcriptional regulation of the DEAF1 promoter. Moreover, behavioral studies in mice with a conditional knockout of Deaf1 in the brain showed memory deficits and increased anxiety-like behavior. Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
Author	Willaert, Andy Zweier, Christiane Carvill, Gemma L. Menten, Björn Huggenvik, Jodi I. Raghavan, Ramya Newhall, Kathryn J. Rajamanickam, Shivakumar Hoischen, Alexander Cai, Xiang Ownby, Stacy L. de Brouwer, Arjan P.M. de Vries, Bert B.A. de Vries, Petra F. Lugtenberg, Dorien Vulto-van Silfhout, Anneke T. Brunner, Han G. Reardon, Sara N. Collard, Michael W. Veltman, Joris A. Vergult, Sarah McIntyre, Tara Eichler, Evan E. Bulinski, Joseph Rauch, Anita Vissers, Lisenka E.L.M. Jarrett, Kelsey Jensik, Philip J. Endele, Sabine Rose, Gregory M. de Rocker, Nina de Ligt, Joep McKnight, G. Stanley van Bokhoven, Hans Mefford, Heather C. van Bon, Bregje W.M.
AuthorAffiliation	4 Department of Pharmacology, University of Washington, Seattle, WA 98195, USA 5 Department of Anatomy, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA 11 Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA 12 Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA 7 Department of Cognitive Neurosciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands 8 Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach-Zurich, Switzerland 1 Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands 9 Neuroscience Center Zurich, University of Zurich, 8603 Schwerzenbach-Zurich, Switzerland 3 Center for Medical Genetics, Ghent University, Ghent 9000, Belgium 6 Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany 2 Department of Physiology and Center for Integrat
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Cites_doi	10.1002/humu.21047 10.1056/NEJMoa1306555 10.1186/1471-213X-8-94 10.1038/12703 10.1523/JNEUROSCI.23-25-08788.2003 10.1038/ng1416 10.1056/NEJMoa1206524 10.1038/nmeth0410-248 10.1074/jbc.M111.293027 10.1017/S1461145708009012 10.1186/1471-2105-11-548 10.1371/journal.pone.0054715 10.1371/journal.pone.0033404 10.1093/jmcb/mjs052 10.1002/j.1460-2075.1996.tb00547.x 10.1002/gene.10090 10.1016/S0968-0004(98)01231-6 10.1074/jbc.M400946200 10.1152/physiolgenomics.00220.2003 10.1210/mend.12.10.0181 10.1038/89675 10.1016/S0140-6736(12)61480-9 10.1074/jbc.274.43.30510 10.1038/ni.1773 10.1038/nature10945 10.1093/bioinformatics/btp528 10.1038/nature10989 10.1126/science.1227764 10.1074/jbc.273.1.361 10.1038/nrg3241 10.1128/MCB.24.5.2074-2082.2004 10.1371/journal.pone.0039218 10.1101/gr.097857.109 10.1038/ng.712 10.1074/jbc.M113.479550
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Copyright	2014 The American Society of Human Genetics Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press May 1, 2014 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics
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References	Ordureau, Enesa, Nanda, Le Francois, Peggie, Prescott, Albert, Cohen (bib31) 2013; 288 Yang, Muzny, Reid, Bainbridge, Willis, Ward, Braxton, Beuten, Xia, Niu (bib5) 2013; 369 Veraksa, Kennison, McGinnis (bib19) 2002; 33 Yip, Creusot, Pager, Sarnow, Fathman (bib10) 2013; 5 O’Roak, Vives, Girirajan, Karakoc, Krumm, Coe, Levy, Ko, Lee, Smith (bib35) 2012; 485 Huggenvik, Michelson, Collard, Ziemba, Gurley, Mowen (bib6) 1998; 12 Michelson, Collard, Ziemba, Persinger, Bartholomew, Huggenvik (bib12) 1999; 274 Calabrese, Capriotti, Fariselli, Martelli, Casadio (bib27) 2009; 30 Jensik, Huggenvik, Collard (bib14) 2012; 7 Zhang, Moseley, Jegga, Gupta, Witte, Sartor, Medvedovic, Williams, Ley-Ebert, Coolen (bib33) 2004; 18 Iafrate, Feuk, Rivera, Listewnik, Donahoe, Qi, Scherer, Lee (bib34) 2004; 36 Tronche, Kellendonk, Kretz, Gass, Anlag, Orban, Bock, Klein, Schütz (bib25) 1999; 23 Gibson, Ramu, Gemünd, Aasland (bib13) 1998; 23 Szewczyk, Albert, Burns, Czesak, Overholser, Jurjus, Meltzer, Konick, Dieter, Herbst (bib22) 2009; 12 Manne, Gary, Oelschlager, Weiss, Frost, Grizzle (bib23) 2001; 7 O’Roak, Vives, Fu, Egertson, Stanaway, Phelps, Carvill, Kumar, Lee, Ankenman (bib24) 2012; 338 Cubeddu, Joseph, Richard, Matthews (bib17) 2012; 7 Jensik, Huggenvik, Collard (bib15) 2004; 279 Lemonde, Turecki, Bakish, Du, Hrdina, Bown, Sequeira, Kushwaha, Morris, Basak (bib21) 2003; 23 Bottomley, Collard, Huggenvik, Liu, Gibson, Sattler (bib11) 2001; 8 Li, Krishnan, Mort, Xin, Kamati, Cooper, Mooney, Radivojac (bib28) 2009; 25 Venselaar, Te Beek, Kuipers, Hekkelman, Vriend (bib30) 2010; 11 Yip, Su, Sheng, Chang, Atkinson, Czesak, Albert, Collier, Turley, Fathman, Creusot (bib7) 2009; 10 Gross, McGinnis (bib9) 1996; 15 LeBoeuf, Ban, Green, Stone, Propst, Blalock, Tauber (bib32) 1998; 273 Vissers, de Ligt, Gilissen, Janssen, Steehouwer, de Vries, van Lier, Arts, Wieskamp, del Rosario (bib4) 2010; 42 Rauch, Wieczorek, Graf, Wieland, Endele, Schwarzmayr, Albrecht, Bartholdi, Beygo, Di Donato (bib2) 2012; 380 Barker, Smyth, Wettenhall, Ward, Bath, Lindeman, Visvader (bib8) 2008; 8 Czesak, Le François, Millar, Deria, Daigle, Visvader, Anisman, Albert (bib20) 2012; 287 Kateb, Perrin, Tripsianes, Zou, Spadaccini, Bottomley, Franzmann, Buchner, Ansieau, Sattler (bib16) 2013; 8 Hahm, Sum, Fujiwara, Lindeman, Visvader, Orkin (bib18) 2004; 24 de Ligt, Willemsen, van Bon, Kleefstra, Yntema, Kroes, Vulto-van Silfhout, Koolen, de Vries, Gilissen (bib1) 2012; 367 Veltman, Brunner (bib3) 2012; 13 Adzhubei, Schmidt, Peshkin, Ramensky, Gerasimova, Bork, Kondrashov, Sunyaev (bib29) 2010; 7 Sanders, Murtha, Gupta, Murdoch, Raubeson, Willsey, Ercan-Sencicek, DiLullo, Parikshak, Stein (bib36) 2012; 485 Pollard, Hubisz, Rosenbloom, Siepel (bib26) 2010; 20 Manne (10.1016/j.ajhg.2014.03.013_bib23) 2001; 7 Adzhubei (10.1016/j.ajhg.2014.03.013_bib29) 2010; 7 Ordureau (10.1016/j.ajhg.2014.03.013_bib31) 2013; 288 Zhang (10.1016/j.ajhg.2014.03.013_bib33) 2004; 18 Michelson (10.1016/j.ajhg.2014.03.013_bib12) 1999; 274 Gross (10.1016/j.ajhg.2014.03.013_bib9) 1996; 15 Szewczyk (10.1016/j.ajhg.2014.03.013_bib22) 2009; 12 Sanders (10.1016/j.ajhg.2014.03.013_bib36) 2012; 485 Iafrate (10.1016/j.ajhg.2014.03.013_bib34) 2004; 36 Cubeddu (10.1016/j.ajhg.2014.03.013_bib17) 2012; 7 Czesak (10.1016/j.ajhg.2014.03.013_bib20) 2012; 287 O’Roak (10.1016/j.ajhg.2014.03.013_bib35) 2012; 485 Veraksa (10.1016/j.ajhg.2014.03.013_bib19) 2002; 33 Huggenvik (10.1016/j.ajhg.2014.03.013_bib6) 1998; 12 Yang (10.1016/j.ajhg.2014.03.013_bib5) 2013; 369 de Ligt (10.1016/j.ajhg.2014.03.013_bib1) 2012; 367 Yip (10.1016/j.ajhg.2014.03.013_bib7) 2009; 10 Venselaar (10.1016/j.ajhg.2014.03.013_bib30) 2010; 11 Bottomley (10.1016/j.ajhg.2014.03.013_bib11) 2001; 8 Kateb (10.1016/j.ajhg.2014.03.013_bib16) 2013; 8 Jensik (10.1016/j.ajhg.2014.03.013_bib14) 2012; 7 Rauch (10.1016/j.ajhg.2014.03.013_bib2) 2012; 380 Barker (10.1016/j.ajhg.2014.03.013_bib8) 2008; 8 Yip (10.1016/j.ajhg.2014.03.013_bib10) 2013; 5 Tronche (10.1016/j.ajhg.2014.03.013_bib25) 1999; 23 Hahm (10.1016/j.ajhg.2014.03.013_bib18) 2004; 24 Calabrese (10.1016/j.ajhg.2014.03.013_bib27) 2009; 30 Li (10.1016/j.ajhg.2014.03.013_bib28) 2009; 25 LeBoeuf (10.1016/j.ajhg.2014.03.013_bib32) 1998; 273 Vissers (10.1016/j.ajhg.2014.03.013_bib4) 2010; 42 Gibson (10.1016/j.ajhg.2014.03.013_bib13) 1998; 23 Pollard (10.1016/j.ajhg.2014.03.013_bib26) 2010; 20 O’Roak (10.1016/j.ajhg.2014.03.013_bib24) 2012; 338 Lemonde (10.1016/j.ajhg.2014.03.013_bib21) 2003; 23 Veltman (10.1016/j.ajhg.2014.03.013_bib3) 2012; 13 Jensik (10.1016/j.ajhg.2014.03.013_bib15) 2004; 279 25091821 - Clin Genet. 2014 Dec;86(6):507-8 10521432 - J Biol Chem. 1999 Oct 22;274(43):30510-9 12112874 - Genesis. 2002 Jun;33(2):67-76 22723967 - PLoS One. 2012;7(6):e39218 9773984 - Mol Endocrinol. 1998 Oct;12(10):1619-39 8617243 - EMBO J. 1996 Apr 15;15(8):1961-70 22232550 - J Biol Chem. 2012 Feb 24;287(9):6615-27 19858363 - Genome Res. 2010 Jan;20(1):110-21 23160955 - Science. 2012 Dec 21;338(6114):1619-22 23020937 - Lancet. 2012 Nov 10;380(9854):1674-82 23372760 - PLoS One. 2013;8(1):e54715 15161925 - J Biol Chem. 2004 Jul 30;279(31):32692-9 15286789 - Nat Genet. 2004 Sep;36(9):949-51 19734154 - Bioinformatics. 2009 Nov 1;25(21):2744-50 18826651 - BMC Dev Biol. 2008;8:94 24088041 - N Engl J Med. 2013 Oct 17;369(16):1502-11 22442688 - PLoS One. 2012;7(3):e33404 19514061 - Hum Mutat. 2009 Aug;30(8):1237-44 11427895 - Nat Struct Biol. 2001 Jul;8(7):626-33 23846693 - J Biol Chem. 2013 Aug 23;288(34):24569-80 22805709 - Nat Rev Genet. 2012 Aug;13(8):565-75 10471508 - Nat Genet. 1999 Sep;23(1):99-103 23033978 - N Engl J Med. 2012 Nov 15;367(20):1921-9 11705868 - Clin Cancer Res. 2001 Nov;7(11):3495-503 20354512 - Nat Methods. 2010 Apr;7(4):248-9 22923498 - J Mol Cell Biol. 2013 Apr;5(2):99-110 21059217 - BMC Bioinformatics. 2010;11:548 15126645 - Physiol Genomics. 2004 Jul 8;18(2):167-83 9417089 - J Biol Chem. 1998 Jan 2;273(1):361-8 18561871 - Int J Neuropsychopharmacol. 2009 Mar;12(2):155-68 14966286 - Mol Cell Biol. 2004 Mar;24(5):2074-82 21076407 - Nat Genet. 2010 Dec;42(12):1109-12 22495306 - Nature. 2012 May 10;485(7397):237-41 9697411 - Trends Biochem Sci. 1998 Jul;23(7):242-4 19668219 - Nat Immunol. 2009 Sep;10(9):1026-33 22495309 - Nature. 2012 May 10;485(7397):246-50 14507979 - J Neurosci. 2003 Sep 24;23(25):8788-99
References_xml	– volume: 13 start-page: 565 year: 2012 end-page: 575 ident: bib3 article-title: De novo mutations in human genetic disease publication-title: Nat. Rev. Genet. – volume: 25 start-page: 2744 year: 2009 end-page: 2750 ident: bib28 article-title: Automated inference of molecular mechanisms of disease from amino acid substitutions publication-title: Bioinformatics – volume: 12 start-page: 1619 year: 1998 end-page: 1639 ident: bib6 article-title: Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein publication-title: Mol. Endocrinol. – volume: 485 start-page: 237 year: 2012 end-page: 241 ident: bib36 article-title: De novo mutations revealed by whole-exome sequencing are strongly associated with autism publication-title: Nature – volume: 380 start-page: 1674 year: 2012 end-page: 1682 ident: bib2 article-title: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study publication-title: Lancet – volume: 8 start-page: 626 year: 2001 end-page: 633 ident: bib11 article-title: The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation publication-title: Nat. Struct. Biol. – volume: 367 start-page: 1921 year: 2012 end-page: 1929 ident: bib1 article-title: Diagnostic exome sequencing in persons with severe intellectual disability publication-title: N. Engl. J. Med. – volume: 23 start-page: 8788 year: 2003 end-page: 8799 ident: bib21 article-title: Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide publication-title: J. Neurosci. – volume: 7 start-page: 3495 year: 2001 end-page: 3503 ident: bib23 article-title: Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas publication-title: Clin. Cancer Res. – volume: 10 start-page: 1026 year: 2009 end-page: 1033 ident: bib7 article-title: Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes publication-title: Nat. Immunol. – volume: 30 start-page: 1237 year: 2009 end-page: 1244 ident: bib27 article-title: Functional annotations improve the predictive score of human disease-related mutations in proteins publication-title: Hum. Mutat. – volume: 369 start-page: 1502 year: 2013 end-page: 1511 ident: bib5 article-title: Clinical whole-exome sequencing for the diagnosis of mendelian disorders publication-title: N. Engl. J. Med. – volume: 8 start-page: 94 year: 2008 ident: bib8 article-title: Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland publication-title: BMC Dev. Biol. – volume: 338 start-page: 1619 year: 2012 end-page: 1622 ident: bib24 article-title: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders publication-title: Science – volume: 36 start-page: 949 year: 2004 end-page: 951 ident: bib34 article-title: Detection of large-scale variation in the human genome publication-title: Nat. Genet. – volume: 12 start-page: 155 year: 2009 end-page: 168 ident: bib22 article-title: Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder publication-title: Int. J. Neuropsychopharmacol. – volume: 20 start-page: 110 year: 2010 end-page: 121 ident: bib26 article-title: Detection of nonneutral substitution rates on mammalian phylogenies publication-title: Genome Res. – volume: 42 start-page: 1109 year: 2010 end-page: 1112 ident: bib4 article-title: A de novo paradigm for mental retardation publication-title: Nat. Genet. – volume: 15 start-page: 1961 year: 1996 end-page: 1970 ident: bib9 article-title: DEAF-1, a novel protein that binds an essential region in a Deformed response element publication-title: EMBO J. – volume: 23 start-page: 242 year: 1998 end-page: 244 ident: bib13 article-title: The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor publication-title: Trends Biochem. Sci. – volume: 288 start-page: 24569 year: 2013 end-page: 24580 ident: bib31 article-title: DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA publication-title: J. Biol. Chem. – volume: 33 start-page: 67 year: 2002 end-page: 76 ident: bib19 article-title: DEAF-1 function is essential for the early embryonic development of Drosophila publication-title: Genesis – volume: 485 start-page: 246 year: 2012 end-page: 250 ident: bib35 article-title: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations publication-title: Nature – volume: 23 start-page: 99 year: 1999 end-page: 103 ident: bib25 article-title: Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety publication-title: Nat. Genet. – volume: 7 start-page: e39218 year: 2012 ident: bib17 article-title: Contribution of DEAF1 structural domains to the interaction with the breast cancer oncogene LMO4 publication-title: PLoS ONE – volume: 274 start-page: 30510 year: 1999 end-page: 30519 ident: bib12 article-title: Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter publication-title: J. Biol. Chem. – volume: 279 start-page: 32692 year: 2004 end-page: 32699 ident: bib15 article-title: Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1) publication-title: J. Biol. Chem. – volume: 273 start-page: 361 year: 1998 end-page: 368 ident: bib32 article-title: Molecular cloning, sequence analysis, expression, and tissue distribution of suppressin, a novel suppressor of cell cycle entry publication-title: J. Biol. Chem. – volume: 18 start-page: 167 year: 2004 end-page: 183 ident: bib33 article-title: Neural system-enriched gene expression: relationship to biological pathways and neurological diseases publication-title: Physiol. Genomics – volume: 7 start-page: e33404 year: 2012 ident: bib14 article-title: Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex publication-title: PLoS ONE – volume: 8 start-page: e54715 year: 2013 ident: bib16 article-title: Structural and functional analysis of the DEAF-1 and BS69 MYND domains publication-title: PLoS ONE – volume: 11 start-page: 548 year: 2010 ident: bib30 article-title: Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces publication-title: BMC Bioinformatics – volume: 24 start-page: 2074 year: 2004 end-page: 2082 ident: bib18 article-title: Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1 publication-title: Mol. Cell. Biol. – volume: 287 start-page: 6615 year: 2012 end-page: 6627 ident: bib20 article-title: Increased serotonin-1A (5-HT1A) autoreceptor expression and reduced raphe serotonin levels in deformed epidermal autoregulatory factor-1 (Deaf-1) gene knock-out mice publication-title: J. Biol. Chem. – volume: 7 start-page: 248 year: 2010 end-page: 249 ident: bib29 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods – volume: 5 start-page: 99 year: 2013 end-page: 110 ident: bib10 article-title: Reduced DEAF1 function during type 1 diabetes inhibits translation in lymph node stromal cells by suppressing Eif4g3 publication-title: J. Mol. Cell Biol. – volume: 30 start-page: 1237 year: 2009 ident: 10.1016/j.ajhg.2014.03.013_bib27 article-title: Functional annotations improve the predictive score of human disease-related mutations in proteins publication-title: Hum. Mutat. doi: 10.1002/humu.21047 – volume: 369 start-page: 1502 year: 2013 ident: 10.1016/j.ajhg.2014.03.013_bib5 article-title: Clinical whole-exome sequencing for the diagnosis of mendelian disorders publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1306555 – volume: 8 start-page: 94 year: 2008 ident: 10.1016/j.ajhg.2014.03.013_bib8 article-title: Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland publication-title: BMC Dev. Biol. doi: 10.1186/1471-213X-8-94 – volume: 23 start-page: 99 year: 1999 ident: 10.1016/j.ajhg.2014.03.013_bib25 article-title: Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety publication-title: Nat. Genet. doi: 10.1038/12703 – volume: 23 start-page: 8788 year: 2003 ident: 10.1016/j.ajhg.2014.03.013_bib21 article-title: Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.23-25-08788.2003 – volume: 36 start-page: 949 year: 2004 ident: 10.1016/j.ajhg.2014.03.013_bib34 article-title: Detection of large-scale variation in the human genome publication-title: Nat. Genet. doi: 10.1038/ng1416 – volume: 367 start-page: 1921 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib1 article-title: Diagnostic exome sequencing in persons with severe intellectual disability publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1206524 – volume: 7 start-page: 248 year: 2010 ident: 10.1016/j.ajhg.2014.03.013_bib29 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 287 start-page: 6615 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib20 article-title: Increased serotonin-1A (5-HT1A) autoreceptor expression and reduced raphe serotonin levels in deformed epidermal autoregulatory factor-1 (Deaf-1) gene knock-out mice publication-title: J. Biol. Chem. doi: 10.1074/jbc.M111.293027 – volume: 12 start-page: 155 year: 2009 ident: 10.1016/j.ajhg.2014.03.013_bib22 article-title: Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder publication-title: Int. J. Neuropsychopharmacol. doi: 10.1017/S1461145708009012 – volume: 11 start-page: 548 year: 2010 ident: 10.1016/j.ajhg.2014.03.013_bib30 article-title: Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces publication-title: BMC Bioinformatics doi: 10.1186/1471-2105-11-548 – volume: 8 start-page: e54715 year: 2013 ident: 10.1016/j.ajhg.2014.03.013_bib16 article-title: Structural and functional analysis of the DEAF-1 and BS69 MYND domains publication-title: PLoS ONE doi: 10.1371/journal.pone.0054715 – volume: 7 start-page: e33404 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib14 article-title: Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex publication-title: PLoS ONE doi: 10.1371/journal.pone.0033404 – volume: 5 start-page: 99 year: 2013 ident: 10.1016/j.ajhg.2014.03.013_bib10 article-title: Reduced DEAF1 function during type 1 diabetes inhibits translation in lymph node stromal cells by suppressing Eif4g3 publication-title: J. Mol. Cell Biol. doi: 10.1093/jmcb/mjs052 – volume: 15 start-page: 1961 year: 1996 ident: 10.1016/j.ajhg.2014.03.013_bib9 article-title: DEAF-1, a novel protein that binds an essential region in a Deformed response element publication-title: EMBO J. doi: 10.1002/j.1460-2075.1996.tb00547.x – volume: 33 start-page: 67 year: 2002 ident: 10.1016/j.ajhg.2014.03.013_bib19 article-title: DEAF-1 function is essential for the early embryonic development of Drosophila publication-title: Genesis doi: 10.1002/gene.10090 – volume: 7 start-page: 3495 year: 2001 ident: 10.1016/j.ajhg.2014.03.013_bib23 article-title: Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas publication-title: Clin. Cancer Res. – volume: 23 start-page: 242 year: 1998 ident: 10.1016/j.ajhg.2014.03.013_bib13 article-title: The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor publication-title: Trends Biochem. Sci. doi: 10.1016/S0968-0004(98)01231-6 – volume: 279 start-page: 32692 year: 2004 ident: 10.1016/j.ajhg.2014.03.013_bib15 article-title: Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1) publication-title: J. Biol. Chem. doi: 10.1074/jbc.M400946200 – volume: 18 start-page: 167 year: 2004 ident: 10.1016/j.ajhg.2014.03.013_bib33 article-title: Neural system-enriched gene expression: relationship to biological pathways and neurological diseases publication-title: Physiol. Genomics doi: 10.1152/physiolgenomics.00220.2003 – volume: 12 start-page: 1619 year: 1998 ident: 10.1016/j.ajhg.2014.03.013_bib6 article-title: Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein publication-title: Mol. Endocrinol. doi: 10.1210/mend.12.10.0181 – volume: 8 start-page: 626 year: 2001 ident: 10.1016/j.ajhg.2014.03.013_bib11 article-title: The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation publication-title: Nat. Struct. Biol. doi: 10.1038/89675 – volume: 380 start-page: 1674 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib2 article-title: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study publication-title: Lancet doi: 10.1016/S0140-6736(12)61480-9 – volume: 274 start-page: 30510 year: 1999 ident: 10.1016/j.ajhg.2014.03.013_bib12 article-title: Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter publication-title: J. Biol. Chem. doi: 10.1074/jbc.274.43.30510 – volume: 10 start-page: 1026 year: 2009 ident: 10.1016/j.ajhg.2014.03.013_bib7 article-title: Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes publication-title: Nat. Immunol. doi: 10.1038/ni.1773 – volume: 485 start-page: 237 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib36 article-title: De novo mutations revealed by whole-exome sequencing are strongly associated with autism publication-title: Nature doi: 10.1038/nature10945 – volume: 25 start-page: 2744 year: 2009 ident: 10.1016/j.ajhg.2014.03.013_bib28 article-title: Automated inference of molecular mechanisms of disease from amino acid substitutions publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp528 – volume: 485 start-page: 246 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib35 article-title: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations publication-title: Nature doi: 10.1038/nature10989 – volume: 338 start-page: 1619 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib24 article-title: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders publication-title: Science doi: 10.1126/science.1227764 – volume: 273 start-page: 361 year: 1998 ident: 10.1016/j.ajhg.2014.03.013_bib32 article-title: Molecular cloning, sequence analysis, expression, and tissue distribution of suppressin, a novel suppressor of cell cycle entry publication-title: J. Biol. Chem. doi: 10.1074/jbc.273.1.361 – volume: 13 start-page: 565 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib3 article-title: De novo mutations in human genetic disease publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3241 – volume: 24 start-page: 2074 year: 2004 ident: 10.1016/j.ajhg.2014.03.013_bib18 article-title: Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner Deaf-1 publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.24.5.2074-2082.2004 – volume: 7 start-page: e39218 year: 2012 ident: 10.1016/j.ajhg.2014.03.013_bib17 article-title: Contribution of DEAF1 structural domains to the interaction with the breast cancer oncogene LMO4 publication-title: PLoS ONE doi: 10.1371/journal.pone.0039218 – volume: 20 start-page: 110 year: 2010 ident: 10.1016/j.ajhg.2014.03.013_bib26 article-title: Detection of nonneutral substitution rates on mammalian phylogenies publication-title: Genome Res. doi: 10.1101/gr.097857.109 – volume: 42 start-page: 1109 year: 2010 ident: 10.1016/j.ajhg.2014.03.013_bib4 article-title: A de novo paradigm for mental retardation publication-title: Nat. Genet. doi: 10.1038/ng.712 – volume: 288 start-page: 24569 year: 2013 ident: 10.1016/j.ajhg.2014.03.013_bib31 article-title: DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA publication-title: J. Biol. Chem. doi: 10.1074/jbc.M113.479550 – reference: 9773984 - Mol Endocrinol. 1998 Oct;12(10):1619-39 – reference: 23033978 - N Engl J Med. 2012 Nov 15;367(20):1921-9 – reference: 14507979 - J Neurosci. 2003 Sep 24;23(25):8788-99 – reference: 9417089 - J Biol Chem. 1998 Jan 2;273(1):361-8 – reference: 8617243 - EMBO J. 1996 Apr 15;15(8):1961-70 – reference: 18826651 - BMC Dev Biol. 2008;8:94 – reference: 23160955 - Science. 2012 Dec 21;338(6114):1619-22 – reference: 19514061 - Hum Mutat. 2009 Aug;30(8):1237-44 – reference: 22442688 - PLoS One. 2012;7(3):e33404 – reference: 22723967 - PLoS One. 2012;7(6):e39218 – reference: 18561871 - Int J Neuropsychopharmacol. 2009 Mar;12(2):155-68 – reference: 12112874 - Genesis. 2002 Jun;33(2):67-76 – reference: 10521432 - J Biol Chem. 1999 Oct 22;274(43):30510-9 – reference: 15161925 - J Biol Chem. 2004 Jul 30;279(31):32692-9 – reference: 9697411 - Trends Biochem Sci. 1998 Jul;23(7):242-4 – reference: 11427895 - Nat Struct Biol. 2001 Jul;8(7):626-33 – reference: 21059217 - BMC Bioinformatics. 2010;11:548 – reference: 23020937 - Lancet. 2012 Nov 10;380(9854):1674-82 – reference: 15126645 - Physiol Genomics. 2004 Jul 8;18(2):167-83 – reference: 22923498 - J Mol Cell Biol. 2013 Apr;5(2):99-110 – reference: 19858363 - Genome Res. 2010 Jan;20(1):110-21 – reference: 11705868 - Clin Cancer Res. 2001 Nov;7(11):3495-503 – reference: 24088041 - N Engl J Med. 2013 Oct 17;369(16):1502-11 – reference: 23846693 - J Biol Chem. 2013 Aug 23;288(34):24569-80 – reference: 22805709 - Nat Rev Genet. 2012 Aug;13(8):565-75 – reference: 23372760 - PLoS One. 2013;8(1):e54715 – reference: 20354512 - Nat Methods. 2010 Apr;7(4):248-9 – reference: 21076407 - Nat Genet. 2010 Dec;42(12):1109-12 – reference: 19668219 - Nat Immunol. 2009 Sep;10(9):1026-33 – reference: 22495306 - Nature. 2012 May 10;485(7397):237-41 – reference: 22495309 - Nature. 2012 May 10;485(7397):246-50 – reference: 22232550 - J Biol Chem. 2012 Feb 24;287(9):6615-27 – reference: 10471508 - Nat Genet. 1999 Sep;23(1):99-103 – reference: 25091821 - Clin Genet. 2014 Dec;86(6):507-8 – reference: 14966286 - Mol Cell Biol. 2004 Mar;24(5):2074-82 – reference: 15286789 - Nat Genet. 2004 Sep;36(9):949-51 – reference: 19734154 - Bioinformatics. 2009 Nov 1;25(21):2744-50
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Snippet	Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1, which encodes a transcription factor with an... Recently, we identified in two individuals with intellectual disability (ID) different de novo mutations in DEAF1 , which encodes a transcription factor with...
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SubjectTerms	Amino Acid Sequence Amino acids Animals Child Cohort Studies DNA Mutational Analysis Female Genotype & phenotype Humans Intellectual Disability - genetics Learning disabilities Male Memory Mental Disorders - genetics Mice Mice, Knockout Molecular Sequence Data Mutation Nuclear Proteins - genetics Protein Structure, Tertiary - genetics Speech Disorders - genetics Transcription Factors
Title	Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
URI	https://dx.doi.org/10.1016/j.ajhg.2014.03.013 https://www.ncbi.nlm.nih.gov/pubmed/24726472 https://www.proquest.com/docview/1524252593 https://www.proquest.com/docview/1521331365 https://www.proquest.com/docview/1534809992 https://pubmed.ncbi.nlm.nih.gov/PMC4067565
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