The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are r...
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| Published in | Genetics in medicine Vol. 21; no. 6; pp. 1295 - 1307 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.06.2019
Elsevier Limited |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1098-3600 1530-0366 1530-0366 |
| DOI | 10.1038/s41436-018-0330-z |
Cover
| Abstract | Purpose
Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.
Methods
Clinicians entered clinical data in an extensive web-based survey.
Results
79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (
p
< 0.001) in ARID1B-CSS patients. No other significant differences were identified.
Conclusion
There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. |
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| AbstractList | Purpose
Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.
Methods
Clinicians entered clinical data in an extensive web-based survey.
Results
79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (
p
< 0.001) in ARID1B-CSS patients. No other significant differences were identified.
Conclusion
There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. PurposePathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.MethodsClinicians entered clinical data in an extensive web-based survey.Results79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.ConclusionThere are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.PURPOSEPathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.Clinicians entered clinical data in an extensive web-based survey.METHODSClinicians entered clinical data in an extensive web-based survey.79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.RESULTS79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.CONCLUSIONThere are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Clinicians entered clinical data in an extensive web-based survey. 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features. |
| Author | Baban, Anwar Pottinger, Caroline Martinez, Francisco Ruivenkamp, Claudia A. L. Horn, Denise Mizuno, Seiji Wilson, Louise C. Kayserili, Hülya Kosho, Tomoki Santen, Gijs W. E. Earl, Rachel de Vries, Bert B. A. Kant, Sarina G. Rosello, Monica Soares, Gabriela Lederer, Damien Orellana, Carmen Mancini, Grazia M. S. Chrzanowska, Krystyna van Haeringen, Arie Hunt, David Krajewska-Walasek, Malgorzata Alanay, Yasemin Eichler, Evan Oehl-Jaschkowitz, Barbara Roifman, Maian Robertson, Stephen P. Vilain, Catheline Splitt, Miranda Gardham, Alice Bayat, Allan Pasquier, Laurent Herkert, Johanna C. Elcioglu, Nursel Vincent-Delorme, Catherine Lees, Melissa Utine, G. Eda Laulund, Lone W. Ropers, Fabienne G. Netzer, Christian Stegmann, Alexander P. A. Gener, Blanca López-González, Vanesa Pfundt, Rolph Kilic, Esra Wheeler, Patricia Maas, Saskia Beck-Wödl, Stefanie Wilson, Golder N. Rooryck, Caroline Riehmer, Vera AlKindy, Adila McGuire, Marianne Sonmez, Fatma Mujgan Moeschler, John B. Campeau, Philippe M. Tanabe, Saori Lammers, Kylin Wollnik, Bernd Marcelis, Carlo |
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A. surname: de Vries fullname: de Vries, Bert B. A. organization: Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center – sequence: 105 givenname: Gijs W. E. surname: Santen fullname: Santen, Gijs W. E. email: santen@lumc.nl organization: Department of Clinical Genetics, Leiden University Medical Center |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30349098$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/ejhg.2016.146 10.4008/jcrpe.v1i3.53 10.1038/nature14135 10.1002/ajmg.a.32111 10.1002/ajmg.c.31414 10.5582/irdr.2014.01040 10.1038/gim.2012.164 10.1002/humu.22347 10.1111/cge.12225 10.1111/j.1399-0004.2011.01755.x 10.1016/j.braindev.2014.08.009 10.1002/ajmg.a.37405 10.1002/ajmg.a.38327 10.1186/1471-2431-13-59 10.1002/ajmg.a.36515 10.1038/ejhg.2011.24 10.1038/ejhg.2014.25 10.1016/S0140-6736(14)61705-0 10.1002/ajmg.c.31410 10.1038/ng.2219 10.1002/ajmg.c.31416 10.1016/j.ajhg.2015.04.013 10.1038/ng.2217 10.1186/s12864-015-1898-1 10.1186/s12864-017-3671-0 10.1002/ajmg.a.36738 10.1016/j.ajhg.2012.02.007 10.1002/ajmg.a.37945 10.5582/irdr.2014.01021 10.1186/1750-1172-9-43 10.1016/j.ajhg.2009.03.010 10.1002/humu.22394 10.1002/ajmg.a.37861 10.1093/hmg/ddt366 10.1002/ajmg.a.38143 10.1159/000321577 10.1093/brain/aww181 10.3390/cells5040045 10.7554/eLife.25730 |
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| References | Seabra, Szoko, Erdin (CR21) 2017; 173 (CR3) 2015; 519 Sim, White, Fitzpatrick (CR15) 2014; 9 Biegel, Busse, Weissman (CR37) 2014; 166C Firth, Richards, Bevan (CR40) 2009; 84 Zweier, Peippo, Poyhonen (CR23) 2017; 173 Pedicelli, Peschiaroli, Violi, Cianfarani (CR36) 2009; 1 Baban, Moresco, Divizia (CR26) 2008; 146A Sonmez, Uctepe, Gunduz (CR19) 2016; 5 CR35 Fenton, Kim (CR25) 2013; 13 Malli, Duba, Erdel (CR29) 2014; 164A CR32 Johnston, Lewis, Ng (CR33) 2015; 96 Rosenfeld, Coe, Eichler, Cuckle, Shaffer (CR34) 2013; 15 Smith, Holden, Friez, Jones, Lyons (CR18) 2016; 170 Tsurusaki, Okamoto, Ohashi (CR9) 2012; 44 Zahir, Mwenifumbo, Chun (CR22) 2017; 18 Vals, Oiglane-Shlik, Noukas (CR10) 2014; 22 Ben-Salem, Sobreira, Akawi (CR17) 2016; 170A Takenouchi, Yoshihashi, Sakaguchi (CR20) 2016; 170 Trujillano, Bertoli-Avella, Kumar Kandaswamy (CR24) 2017; 25 Wright, Fitzgerald, Jones (CR1) 2015; 385 CR7 Sim, White, Lockhart (CR30) 2015; 4 Mari, Marozza, Mencarelli (CR12) 2015; 37 Backx, Seuntjens, Devriendt, Vermeesch, Van Esch (CR28) 2011; 132 CR27 Tsurusaki, Okamoto, Ohashi (CR6) 2014; 85 Son, Crabtree (CR31) 2014; 166C Halgren, Kjaergaard, Bak (CR14) 2012; 82 Yu, Yao, Wang (CR16) 2015; 16 Santen, Aten, Sun (CR8) 2012; 44 Hoyer, Ekici, Endele (CR2) 2012; 90 Santen, Clayton-Smith (CR11) 2014; 166C Santen, Aten, Vulto-van Silfhout (CR4) 2013; 34 Nord, Roeb, Dickel (CR13) 2011; 19 Vengoechea, Carpenter, Zarate (CR38) 2014; 164A Girdea, Dumitriu, Fiume (CR39) 2013; 34 Wieczorek, Bogershausen, Beleggia (CR5) 2013; 22 Tsurusaki (10.1038/s41436-018-0330-z_bb0035) Ben-Salem (10.1038/s41436-018-0330-z_bb0090) Mari (10.1038/s41436-018-0330-z_bb0065) Santen (10.1038/s41436-018-0330-z_bb0060) Sonmez (10.1038/s41436-018-0330-z_bb0100) Nord (10.1038/s41436-018-0330-z_bb0070) Vengoechea (10.1038/s41436-018-0330-z_bb0195) Rosenfeld (10.1038/s41436-018-0330-z_bb0175) Girdea (10.1038/s41436-018-0330-z_bb0200) Malli (10.1038/s41436-018-0330-z_bb0150) 10.1038/s41436-018-0330-z_bb0165 Johnston (10.1038/s41436-018-0330-z_bb0170) 10.1038/s41436-018-0330-z_bb0140 10.1038/s41436-018-0330-z_bb0040 Pedicelli (10.1038/s41436-018-0330-z_bb0185) Wright (10.1038/s41436-018-0330-z_bb0010) Son (10.1038/s41436-018-0330-z_bb0160) 10.1038/s41436-018-0330-z_bb0180 Deciphering Developmental Disorders Study.. (10.1038/s41436-018-0330-z_bb0020) Firth (10.1038/s41436-018-0330-z_bb0205) Sim (10.1038/s41436-018-0330-z_bb0155) Tsurusaki (10.1038/s41436-018-0330-z_bb0050) Seabra (10.1038/s41436-018-0330-z_bb0110) Sim (10.1038/s41436-018-0330-z_bb0080) Smith (10.1038/s41436-018-0330-z_bb0095) Baban (10.1038/s41436-018-0330-z_bb0135) Yu (10.1038/s41436-018-0330-z_bb0085) Santen (10.1038/s41436-018-0330-z_bb0045) Vals (10.1038/s41436-018-0330-z_bb0055) Zahir (10.1038/s41436-018-0330-z_bb0115) Fenton (10.1038/s41436-018-0330-z_bb0130) Santen (10.1038/s41436-018-0330-z_bb0025) Hoyer (10.1038/s41436-018-0330-z_bb0015) Backx (10.1038/s41436-018-0330-z_bb0145) Takenouchi (10.1038/s41436-018-0330-z_bb0105) Biegel (10.1038/s41436-018-0330-z_bb0190) Wieczorek (10.1038/s41436-018-0330-z_bb0030) Zweier (10.1038/s41436-018-0330-z_bb0120) Trujillano (10.1038/s41436-018-0330-z_bb0125) Halgren (10.1038/s41436-018-0330-z_bb0075) 31105273 - Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. 30696996 - Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. 31105272 - Genet Med. 2019 Nov;21(11):2656-2657. doi: 10.1038/s41436-019-0547-5. |
| References_xml | – volume: 25 start-page: 176 year: 2017 end-page: 82 ident: CR24 article-title: Clinical exome sequencing: results from 2819 samples reflecting 1000 families publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2016.146 – volume: 1 start-page: 105 year: 2009 end-page: 15 ident: CR36 article-title: Controversies in the definition and treatment of idiopathic short stature (ISS) publication-title: J Clin Res Pediatr Endocrinol doi: 10.4008/jcrpe.v1i3.53 – volume: 519 start-page: 223 year: 2015 end-page: 8 ident: CR3 article-title: Large-scale discovery of novel genetic causes of developmental disorders publication-title: Nature doi: 10.1038/nature14135 – volume: 146A start-page: 384 year: 2008 end-page: 8 ident: CR26 article-title: Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.32111 – volume: 166C start-page: 276 year: 2014 end-page: 89 ident: CR11 article-title: ARID1B-CSS consortium. The ARID1B phenotype: what we have learned so far publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.31414 – volume: 5 start-page: 222 year: 2016 end-page: 6 ident: CR19 article-title: Coffin-Siris syndrome with cafe-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene publication-title: Intractable Rare Dis Res doi: 10.5582/irdr.2014.01040 – volume: 15 start-page: 478 year: 2013 end-page: 81 ident: CR34 article-title: Estimates of penetrance for recurrent pathogenic copy-number variations publication-title: Genet Med doi: 10.1038/gim.2012.164 – volume: 34 start-page: 1057 year: 2013 end-page: 65 ident: CR39 article-title: PhenoTips: patient phenotyping software for clinical and research use publication-title: Hum Mutat doi: 10.1002/humu.22347 – volume: 85 start-page: 548 year: 2014 end-page: 54 ident: CR6 article-title: Coffin-Siris syndrome is a SWI/SNF complex disorder publication-title: Clin Genet doi: 10.1111/cge.12225 – volume: 82 start-page: 248 year: 2012 end-page: 55 ident: CR14 article-title: Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B publication-title: Clin Genet doi: 10.1111/j.1399-0004.2011.01755.x – volume: 37 start-page: 527 year: 2015 end-page: 36 ident: CR12 article-title: Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability publication-title: Brain Dev doi: 10.1016/j.braindev.2014.08.009 – volume: 170A start-page: 156 year: 2016 end-page: 61 ident: CR17 article-title: Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.37405 – volume: 173 start-page: 2478 year: 2017 end-page: 84 ident: CR21 article-title: A novel microduplication of ARID1B: clinical, genetic, and proteomic findings publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.38327 – ident: CR35 – volume: 13 start-page: 59 year: 2013 ident: CR25 article-title: A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants publication-title: BMC Pediatr doi: 10.1186/1471-2431-13-59 – volume: 164A start-page: 1857 year: 2014 end-page: 9 ident: CR38 article-title: Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.36515 – volume: 19 start-page: 727 year: 2011 end-page: 31 ident: CR13 article-title: Reduced transcript expression of genes affected by inherited and de novo CNVs in autism publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2011.24 – volume: 22 start-page: 1327 year: 2014 end-page: 9 ident: CR10 article-title: Coffin-Siris syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene publication-title: Eur J Hum Genet doi: 10.1038/ejhg.2014.25 – ident: CR27 – volume: 385 start-page: 1305 year: 2015 end-page: 14 ident: CR1 article-title: Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data publication-title: Lancet doi: 10.1016/S0140-6736(14)61705-0 – volume: 166C start-page: 350 year: 2014 end-page: 66 ident: CR37 article-title: SWI/SNF chromatin remodeling complexes and cancer publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.31410 – volume: 44 start-page: 376 year: 2012 end-page: 8 ident: CR9 article-title: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome publication-title: Nat Genet doi: 10.1038/ng.2219 – volume: 166C start-page: 333 year: 2014 end-page: 49 ident: CR31 article-title: The role of BAF (mSWI/SNF) complexes in mammalian neural development publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.31416 – volume: 96 start-page: 913 year: 2015 end-page: 25 ident: CR33 article-title: Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2015.04.013 – volume: 44 start-page: 379 year: 2012 end-page: 80 ident: CR8 article-title: Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome publication-title: Nat Genet doi: 10.1038/ng.2217 – volume: 16 year: 2015 ident: CR16 article-title: De novo mutations in ARID1B associated with both syndromic and nonsyndromic short stature publication-title: BMC Genom doi: 10.1186/s12864-015-1898-1 – volume: 18 year: 2017 ident: CR22 article-title: Comprehensive whole genome sequence analyses yields novel genetic and structural insights for intellectual disability publication-title: BMC Genom doi: 10.1186/s12864-017-3671-0 – volume: 164A start-page: 3126 year: 2014 end-page: 31 ident: CR29 article-title: Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6) (q12.3; q25.3) in a patient with developmental delay publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.36738 – volume: 90 start-page: 565 year: 2012 end-page: 72 ident: CR2 article-title: Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2012.02.007 – volume: 170 start-page: 3313 year: 2016 end-page: 8 ident: CR18 article-title: A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.37945 – volume: 4 start-page: 17 year: 2015 end-page: 23 ident: CR30 article-title: ARID1B-mediated disorders: mutations and possible mechanisms publication-title: Intractable Rare Dis Res doi: 10.5582/irdr.2014.01021 – volume: 9 year: 2014 ident: CR15 article-title: Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-9-43 – ident: CR32 – volume: 84 start-page: 524 year: 2009 end-page: 33 ident: CR40 article-title: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2009.03.010 – volume: 34 start-page: 1519 year: 2013 end-page: 28 ident: CR4 article-title: Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients publication-title: Hum Mutat doi: 10.1002/humu.22394 – ident: CR7 – volume: 170 start-page: 3249 year: 2016 end-page: 52 ident: CR20 article-title: Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.37861 – volume: 22 start-page: 5121 year: 2013 end-page: 35 ident: CR5 article-title: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling publication-title: Hum Mol Genet doi: 10.1093/hmg/ddt366 – volume: 173 start-page: 1440 year: 2017 end-page: 3 ident: CR23 article-title: The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.38143 – volume: 132 start-page: 135 year: 2011 end-page: 43 ident: CR28 article-title: A balanced translocation t(6;14) (q25.3; q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum publication-title: Cytogenet Genome Res doi: 10.1159/000321577 – ident: 10.1038/s41436-018-0330-z_bb0090 – ident: 10.1038/s41436-018-0330-z_bb0165 doi: 10.1093/brain/aww181 – ident: 10.1038/s41436-018-0330-z_bb0125 – ident: 10.1038/s41436-018-0330-z_bb0030 – ident: 10.1038/s41436-018-0330-z_bb0140 doi: 10.3390/cells5040045 – ident: 10.1038/s41436-018-0330-z_bb0035 – ident: 10.1038/s41436-018-0330-z_bb0050 – ident: 10.1038/s41436-018-0330-z_bb0205 – ident: 10.1038/s41436-018-0330-z_bb0055 – ident: 10.1038/s41436-018-0330-z_bb0015 – ident: 10.1038/s41436-018-0330-z_bb0060 – ident: 10.1038/s41436-018-0330-z_bb0010 – ident: 10.1038/s41436-018-0330-z_bb0190 – ident: 10.1038/s41436-018-0330-z_bb0040 – ident: 10.1038/s41436-018-0330-z_bb0085 – ident: 10.1038/s41436-018-0330-z_bb0130 – ident: 10.1038/s41436-018-0330-z_bb0150 – ident: 10.1038/s41436-018-0330-z_bb0155 – ident: 10.1038/s41436-018-0330-z_bb0175 – ident: 10.1038/s41436-018-0330-z_bb0065 – ident: 10.1038/s41436-018-0330-z_bb0075 – ident: 10.1038/s41436-018-0330-z_bb0160 – ident: 10.1038/s41436-018-0330-z_bb0045 – ident: 10.1038/s41436-018-0330-z_bb0110 – ident: 10.1038/s41436-018-0330-z_bb0135 – ident: 10.1038/s41436-018-0330-z_bb0020 – ident: 10.1038/s41436-018-0330-z_bb0070 – ident: 10.1038/s41436-018-0330-z_bb0145 – ident: 10.1038/s41436-018-0330-z_bb0025 – ident: 10.1038/s41436-018-0330-z_bb0115 – ident: 10.1038/s41436-018-0330-z_bb0185 – ident: 10.1038/s41436-018-0330-z_bb0200 – ident: 10.1038/s41436-018-0330-z_bb0095 – ident: 10.1038/s41436-018-0330-z_bb0100 – ident: 10.1038/s41436-018-0330-z_bb0080 – ident: 10.1038/s41436-018-0330-z_bb0105 – ident: 10.1038/s41436-018-0330-z_bb0170 – ident: 10.1038/s41436-018-0330-z_bb0120 – ident: 10.1038/s41436-018-0330-z_bb0180 doi: 10.7554/eLife.25730 – ident: 10.1038/s41436-018-0330-z_bb0195 – reference: 31105273 - Genet Med. 2019 Nov;21(11):2654-2655. doi: 10.1038/s41436-019-0546-6. – reference: 30696996 - Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y. – reference: 31105272 - Genet Med. 2019 Nov;21(11):2656-2657. doi: 10.1038/s41436-019-0547-5. |
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Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing... Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most... PurposePathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies.... |
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| SubjectTerms | Abnormalities, Multiple - genetics Adolescent Adult Biomedical and Life Sciences Biomedicine Child Child, Preschool Chromosomal Proteins, Non-Histone - genetics DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Exome Face - abnormalities Female Genetic Association Studies - methods Genetic Variation - genetics Hand Deformities, Congenital - genetics Human Genetics Humans Infant Infant, Newborn Intellectual disabilities Intellectual Disability - genetics Laboratory Medicine Male Micrognathism - genetics Middle Aged Mutation Neck - abnormalities Penetrance Transcription Factors - genetics Transcription Factors - metabolism |
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| Title | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome |
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