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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273 [Peer Reviewed Journal]

2013 Elsevier Inc. ;Copyright © 2013 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Jan 23, 2013 ;2013 Elsevier Inc. All rights reserved. 2013 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2012.11.002 ;PMID: 23352163

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Title:
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Author: Yu, Timothy W. ; Chahrour, Maria H. ; Coulter, Michael E. ; Jiralerspong, Sarn ; Okamura-Ikeda, Kazuko ; Ataman, Bulent ; Schmitz-Abe, Klaus ; Harmin, David A. ; Adli, Mazhar ; Malik, Athar N. ; D’Gama, Alissa M. ; Lim, Elaine T. ; Sanders, Stephan J. ; Mochida, Ganesh H. ; Partlow, Jennifer N. ; Sunu, Christine M. ; Felie, Jillian M. ; Rodriguez, Jacqueline ; Nasir, Ramzi H. ; Ware, Janice ; Joseph, Robert M. ; Hill, R. Sean ; Kwan, Benjamin Y. ; Al-Saffar, Muna ; Mukaddes, Nahit M. ; Hashmi, Asif ; Balkhy, Soher ; Gascon, Generoso G. ; Hisama, Fuki M. ; LeClair, Elaine ; Poduri, Annapurna ; Oner, Ozgur ; Al-Saad, Samira ; Al-Awadi, Sadika A. ; Bastaki, Laila ; Ben-Omran, Tawfeg ; Teebi, Ahmad S. ; Al-Gazali, Lihadh ; Eapen, Valsamma ; Stevens, Christine R. ; Rappaport, Leonard ; Gabriel, Stacey B. ; Markianos, Kyriacos ; State, Matthew W. ; Greenberg, Michael E. ; Taniguchi, Hisaaki ; Braverman, Nancy E. ; Morrow, Eric M. ; Walsh, Christopher A.
Subjects: Adolescent ; Animals ; Autism ; Autistic Disorder - diagnosis ; Autistic Disorder - genetics ; Behavior ; Cells, Cultured ; Child ; Child, Preschool ; Cohort Studies ; Design ; Exome - genetics ; Experiments ; Families & family life ; Female ; Genes ; Genome-Wide Association Study - methods ; Genomes ; Humans ; Male ; Mutation ; Parents & parenting ; Pedigree ; Rats ; Sequence Analysis, DNA - methods ; Studies ; Young Adult
Is Part Of: Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.259-273
Description: Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1). At least some of these genes show biallelic mutations in nonconsanguineous families as well. These mutations are often only partially disabling or present atypically, with patients lacking diagnostic features of the Mendelian disorders with which these genes are classically associated. Our study shows the utility of WES for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs. ► Whole-exome sequencing (WES) applied to ASD families enriched for inherited causes due to consanguinity ► Familial autism (ASD) traced to hypomorphic mutations in disease genes AMT, PEX7, SYNE1, VPS13B, PAH, POMGNT1 ► The importance of partial loss of gene function in ASDs ► Whole-exome sequencing may be useful for molecular diagnoses due to missed or atypical disease Using whole-exome sequencing, Yu et al. identify cases of autism resulting from inherited recessive or hemizygous (on the X chromosome) mutations in a wide range of genes, implicating synaptic function and neurometabolic pathways in autism pathogenesis.
Publisher: United States: Elsevier Inc
Language: English
Identifier: ISSN: 0896-6273
EISSN: 1097-4199
DOI: 10.1016/j.neuron.2012.11.002
PMID: 23352163
Source: Cell Press Free Archives
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

2013 Elsevier Inc. ;Copyright © 2013 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Jan 23, 2013 ;2013 Elsevier Inc. All rights reserved. 2013 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2012.11.002 ;PMID: 23352163

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