Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45...
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| Published in | Cell reports (Cambridge) Vol. 12; no. 7; pp. 1169 - 1183 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
18.08.2015
Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 2211-1247 2211-1247 |
| DOI | 10.1016/j.celrep.2015.07.023 |
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| Abstract | Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity.
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•WES of a neuropathy cohort identifies causal variants in ∼45% of patients•Three candidate disease genes associated with peripheral neuropathy are proposed•Evidence for genetic mutation burden is found in two independent cohorts•Variant combinatorial effects may contribute to clinical variability and expressivity
Peripheral neuropathy is a clinically variable and genetically heterogeneous disease. In a cohort of patients, Gonzaga-Jauregui et al. have identified causative variants in ∼45% of the families studied, proposed candidate disease genes for an additional three families, and recognized a significant mutation burden in patients versus controls that likely contributes to phenotypic variability. |
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| AbstractList | Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity. Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity. Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity. [Display omitted] •WES of a neuropathy cohort identifies causal variants in ∼45% of patients•Three candidate disease genes associated with peripheral neuropathy are proposed•Evidence for genetic mutation burden is found in two independent cohorts•Variant combinatorial effects may contribute to clinical variability and expressivity Peripheral neuropathy is a clinically variable and genetically heterogeneous disease. In a cohort of patients, Gonzaga-Jauregui et al. have identified causative variants in ∼45% of the families studied, proposed candidate disease genes for an additional three families, and recognized a significant mutation burden in patients versus controls that likely contributes to phenotypic variability. |
| Author | Antonellis, Anthony Muzny, Donna M. Karaca, Ender Katsanis, Nicholas Reitnauer, Pamela J. Withers, Marjorie Kousi, Maria Flores, Brittany N. Parman, Yesim Harel, Tamar Boerwinkle, Eric Okamoto, Yuji Slavotinek, Anne Jhangiani, Shalini N. Us, Onder Gibbs, Richard A. Lupski, James R. Crawford, Thomas O. Shy, Michael Griffin, Laurie B. Bainbridge, Matthew N. Koenig, Michel Battaloglu, Esra Willer, Jason Goksungur, Meryem T. Wiszniewski, Wojciech Francescatto, Ludmila Lawson, Kim S. Pediaditrakis, Igor Gonzaga-Jauregui, Claudia Ozes, Burcak Gambin, Tomasz Pehlivan, Davut Mancias, Pedro |
| Author_xml | – sequence: 1 givenname: Claudia surname: Gonzaga-Jauregui fullname: Gonzaga-Jauregui, Claudia organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 2 givenname: Tamar surname: Harel fullname: Harel, Tamar organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 3 givenname: Tomasz surname: Gambin fullname: Gambin, Tomasz organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 4 givenname: Maria surname: Kousi fullname: Kousi, Maria organization: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA – sequence: 5 givenname: Laurie B. surname: Griffin fullname: Griffin, Laurie B. organization: Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 6 givenname: Ludmila surname: Francescatto fullname: Francescatto, Ludmila organization: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA – sequence: 7 givenname: Burcak surname: Ozes fullname: Ozes, Burcak organization: Department of Molecular Biology and Genetics, Bogazici University, Istanbul 34342, Turkey – sequence: 8 givenname: Ender surname: Karaca fullname: Karaca, Ender organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 9 givenname: Shalini N. surname: Jhangiani fullname: Jhangiani, Shalini N. organization: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 10 givenname: Matthew N. surname: Bainbridge fullname: Bainbridge, Matthew N. organization: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 11 givenname: Kim S. surname: Lawson fullname: Lawson, Kim S. organization: Human Genetics Center and Institute of Molecular Medicine, University of Texas-Houston Health Science Center, Houston, TX 77030, USA – sequence: 12 givenname: Davut surname: Pehlivan fullname: Pehlivan, Davut organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 13 givenname: Yuji surname: Okamoto fullname: Okamoto, Yuji organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 14 givenname: Marjorie surname: Withers fullname: Withers, Marjorie organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 15 givenname: Pedro surname: Mancias fullname: Mancias, Pedro organization: Division of Child & Adolescent Neurology, Department of Neurology and Pediatrics, University of Texas Medical School at Houston, Houston, TX 77030, USA – sequence: 16 givenname: Anne surname: Slavotinek fullname: Slavotinek, Anne organization: Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94158, USA – sequence: 17 givenname: Pamela J. surname: Reitnauer fullname: Reitnauer, Pamela J. organization: Pediatric Teaching Program, Cone Health System and UNC-Chapel Hill, Greensboro, NC 27401, USA – sequence: 18 givenname: Meryem T. surname: Goksungur fullname: Goksungur, Meryem T. organization: Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul 34093, Turkey – sequence: 19 givenname: Michael surname: Shy fullname: Shy, Michael organization: Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA – sequence: 20 givenname: Thomas O. surname: Crawford fullname: Crawford, Thomas O. organization: Departments of Neurology and Pediatrics, Johns Hopkins University, Baltimore, MD 21218, USA – sequence: 21 givenname: Michel surname: Koenig fullname: Koenig, Michel organization: Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), CNRS-INSERM-Universite de Strasbourg, Illkirch 67404, France – sequence: 22 givenname: Jason surname: Willer fullname: Willer, Jason organization: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA – sequence: 23 givenname: Brittany N. surname: Flores fullname: Flores, Brittany N. organization: Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 24 givenname: Igor surname: Pediaditrakis fullname: Pediaditrakis, Igor organization: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA – sequence: 25 givenname: Onder surname: Us fullname: Us, Onder organization: Department of Neurology, Acibadem Kozyatagı Hospital, Istanbul 34742, Turkey – sequence: 26 givenname: Wojciech surname: Wiszniewski fullname: Wiszniewski, Wojciech organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 27 givenname: Yesim surname: Parman fullname: Parman, Yesim organization: Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul 34093, Turkey – sequence: 28 givenname: Anthony surname: Antonellis fullname: Antonellis, Anthony organization: Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 29 givenname: Donna M. surname: Muzny fullname: Muzny, Donna M. organization: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 30 givenname: Nicholas surname: Katsanis fullname: Katsanis, Nicholas organization: Center for Human Disease Modeling, Duke University, Durham, NC 27701, USA – sequence: 31 givenname: Esra surname: Battaloglu fullname: Battaloglu, Esra organization: Department of Molecular Biology and Genetics, Bogazici University, Istanbul 34342, Turkey – sequence: 32 givenname: Eric surname: Boerwinkle fullname: Boerwinkle, Eric organization: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 33 givenname: Richard A. surname: Gibbs fullname: Gibbs, Richard A. organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA – sequence: 34 givenname: James R. surname: Lupski fullname: Lupski, James R. email: jlupski@bcm.edu organization: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26257172$$D View this record in MEDLINE/PubMed https://hal.umontpellier.fr/hal-01958695$$DView record in HAL |
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| Title | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy |
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