De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare co...
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| Published in | American journal of human genetics Vol. 101; no. 2; pp. 300 - 310 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
03.08.2017
Elsevier (Cell Press) Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 1537-6605 |
| DOI | 10.1016/j.ajhg.2017.07.004 |
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| Abstract | Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder’s etiology and genotype-phenotype correlations. |
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| AbstractList | Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations. Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations.Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations. Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1 ) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG , establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2 . Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder’s etiology and genotype-phenotype correlations. Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their genetic heterogeneity. Additional candidate genes have been prioritized in silico by their co-expression in the brain. Here, we evaluate rare coding variability in 20 candidates nominated with the use of a reference gene set of 51 established EE-associated genes. Variants within the 20 candidate genes were extracted from exome-sequencing data of 42 subjects with EE and no previous genetic diagnosis. We identified 7 rare non-synonymous variants in 7 of 20 genes and performed Sanger sequence validation in affected probands and parental samples. De novo variants were found only in SLC1A2 (aka EAAT2 or GLT1) (c.244G>A [p.Gly82Arg]) and YWHAG (aka 14-3-3γ) (c.394C>T [p.Arg132Cys]), highlighting the potential cause of EE in 5% (2/42) of subjects. Seven additional subjects with de novo variants in SLC1A2 (n = 1) and YWHAG (n = 6) were subsequently identified through online tools. We identified a highly significant enrichment of de novo variants in YWHAG, establishing their role in early-onset epilepsy, and we provide additional support for the prior assignment of SLC1A2. Hence, in silico modeling of brain co-expression is an efficient method for nominating EE-associated genes to further elucidate the disorder's etiology and genotype-phenotype correlations. |
| Author | Demos, Michelle Huh, Linda Adam, Shelin Suri, Mohnish Héron, Delphine Sinclair, Graham Nava, Caroline Buerki, Sarah E. Evans, Daniel M. Bolbocean, Corneliu Candido, Tara Boelman, Cyrus Nelson, Tanya N. van Gassen, Koen L.I. Farrer, Matthew J. McKenzie, Marna B. Elmslie, Frances Simon, Marleen E.H. Keren, Boris Guella, Ilaria Vercauteren, Suzanne Connolly, Mary B. Toyota, Eric B. van Karnebeek, Clara Horvath, Gabriella Van Allen, Margot I. Eydoux, Patrice |
| AuthorAffiliation | 8 Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, Paris 75651, France 7 Department of Medical Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands 6 South West Thames Regional Genetics Service, St. George’s University Hospitals NHS Foundation Trust, London SW17 0QT, UK 3 Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC V6H 3V4, Canada 2 Department of Neuropediatrics, Development, and Rehabilitation, University Children’s Hospital, Inselspital, 3010 Berne, Switzerland 5 Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK 1 Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada 4 Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada |
| AuthorAffiliation_xml | – name: 2 Department of Neuropediatrics, Development, and Rehabilitation, University Children’s Hospital, Inselspital, 3010 Berne, Switzerland – name: 1 Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC V5R 6H8, Canada – name: 3 Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children’s Hospital, Vancouver, BC V6H 3V4, Canada – name: 8 Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique – Hôpitaux de Paris, Paris 75651, France – name: 6 South West Thames Regional Genetics Service, St. George’s University Hospitals NHS Foundation Trust, London SW17 0QT, UK – name: 4 Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada – name: 5 Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham NG5 1PB, UK – name: 7 Department of Medical Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, the Netherlands |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28777935$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-04558940$$DView record in HAL |
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| ContentType | Journal Article |
| Contributor | Sinclair, Graham Nelson, Tanya N Bolbocean, Corneliu van Karnebeek, Clara Vercauteren, Suzanne Candido, Tara Huh, Linda Adam, Shelin Boelman, Cyrus Horvath, Gabriella Eydoux, Patrice |
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| Copyright | 2017 American Society of Human Genetics Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Distributed under a Creative Commons Attribution 4.0 International License 2017 American Society of Human Genetics. 2017 American Society of Human Genetics |
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| Keywords | de novo variants SLC1A2 whole-exome sequencing epileptic encephalopathy YWHAG |
| Language | English |
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| PublicationDate | 2017-08-03 |
| PublicationDateYYYYMMDD | 2017-08-03 |
| PublicationDate_xml | – month: 08 year: 2017 text: 2017-08-03 day: 03 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States |
| PublicationTitle | American journal of human genetics |
| PublicationTitleAlternate | Am J Hum Genet |
| PublicationYear | 2017 |
| Publisher | Elsevier Inc Elsevier (Cell Press) Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Elsevier (Cell Press) – name: Elsevier |
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| SubjectTerms | 14-3-3 Proteins - genetics Adolescent Adult Amino Acid Sequence Child de novo variants epileptic encephalopathy Exome - genetics Female Genetic Predisposition to Disease Genotype Glutamate Plasma Membrane Transport Proteins - genetics High-Throughput Nucleotide Sequencing Human health and pathology Humans Infant Life Sciences Male Phenotype SLC1A2 Spasms, Infantile - genetics whole-exome sequencing Young Adult YWHAG |
| Title | De Novo Mutations in YWHAG Cause Early-Onset Epilepsy |
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