Recessive gene disruptions in autism spectrum disorder

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains...

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Published inNature genetics Vol. 51; no. 7; pp. 1092 - 1098
Main Authors Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., Yu, Timothy W.
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.07.2019
Nature Publishing Group
Subjects
45
45/23
631/208/2489
631/208/366/1373
Agriculture
Allelic Imbalance
Animal Genetics and Genomics
Autism
Autism Spectrum Disorder
Autism Spectrum Disorder - genetics
Biomedical and Life Sciences
Biomedicine
Brain research
Cancer Research
Case-Control Studies
Circuits
Cohort Studies
Disruption
ETS protein
Exome Sequencing
Female
Females
Gene expression
Gene Function
Gene sequencing
Genes
Genes, Recessive
Genes, Recessive - genetics
Genetic Predisposition to Disease
Genome, Human
Genomes
Genomics
Haplotypes
Human Genetics
Humans
Letter
Life Sciences
Male
Missense mutation
Mutation
Mutation, Missense
Transcription factors
USH2A protein
Whole Exome Sequencing
Online AccessGet full text

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Abstract Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes ( CA2 , DDHD1 , NSUN2 , PAH , RARB , ROGDI , SLC1A1 , USH2A ) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.
AbstractList Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association and large-scale sequencing studies strongly implicate both common variants and rare de novo variants in ASD. Recessive mutations have also been implicated but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes ( CA2 , DDHD1 , NSUN2 , PAH , RARB , ROGDI , SLC1A1 , USH2A ) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to ~5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes ( CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A ) as well as other genes not previously implicated in ASD including the transcription factor FEV , a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating novel biological pathways responsible for this condition. Analysis of whole exome sequencing data from 2,343 individuals with autism spectrum disorder (ASD) compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants.
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2-4 and rare de novo variants5-10 in ASD. Recessive mutations have also been implicated11-14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals . Genome-wide association and large-scale sequencing studies strongly implicate both common variants and rare de novo variants in ASD. Recessive mutations have also been implicated but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
Author Betancur, Catalina
Walsh, Christopher A.
Yu, Timothy W.
Overman, Lynne M.
Cutler, David J.
Soucy, Aubrie
Chiocchetti, Andreas G.
Daly, Mark J.
De Rubeis, Silvia
Doan, Ryan N.
Buxbaum, Joseph D.
Freitag, Christine M.
Lim, Elaine T.
Goetze, Susanne
AuthorAffiliation 6 Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris 75005, France
15 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
1 Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, Massachusetts, USA, 02115
3 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
12 Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
14 Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
13 Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, Massachusetts, 20115
4 Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
5 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA
10
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  email: timothy.yu@childrens.harvard.edu
  organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, The Broad Institute of MIT and Harvard
BackLink https://www.ncbi.nlm.nih.gov/pubmed/31209396$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright The Author(s), under exclusive licence to Springer Nature America, Inc. 2019
Copyright Nature Publishing Group Jul 2019
Distributed under a Creative Commons Attribution 4.0 International License
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PMCID: PMC6629034
AUTHOR CONTRIBUTIONS
T.W.Y., R.N.D., E.T.L., and M.J.D. designed the study, with important additional contributions by C.B., D.J.C, C.A.W., and J.D.B.; R.N.D., E.T.L., and A.S. performed the data analyses; S.D.R. and S.G. performed Sanger validation; A.C. and C.F. characterized the FEV family; S.G. and T.W.Y. designed the in situ expression analyses; R.N.D. and T.W.Y. wrote the manuscript and all authors reviewed and approved the manuscript.
ORCID 0000-0002-0949-8752
0000-0003-2988-7701
0000-0002-0156-2238
0000-0003-3651-0654
0000-0002-3327-4804
0000-0001-8633-0032
OpenAccessLink https://pubmed.ncbi.nlm.nih.gov/PMC6629034
PMID 31209396
PQID 2254485302
PQPubID 33429
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PublicationTitle Nature genetics
PublicationTitleAbbrev Nat Genet
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Nature Publishing Group
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SSID ssj0014408
Score 2.6369793
Snippet Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common...
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals . Genome-wide association and large-scale sequencing studies strongly implicate both common...
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association and large-scale sequencing studies strongly implicate both common...
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common...
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StartPage 1092
SubjectTerms 45
45/23
631/208/2489
631/208/366/1373
Agriculture
Allelic Imbalance
Animal Genetics and Genomics
Autism
Autism Spectrum Disorder
Autism Spectrum Disorder - genetics
Biomedical and Life Sciences
Biomedicine
Brain research
Cancer Research
Case-Control Studies
Circuits
Cohort Studies
Disruption
ETS protein
Exome Sequencing
Female
Females
Gene expression
Gene Function
Gene sequencing
Genes
Genes, Recessive
Genes, Recessive - genetics
Genetic Predisposition to Disease
Genome, Human
Genomes
Genomics
Haplotypes
Human Genetics
Humans
Letter
Life Sciences
Male
Missense mutation
Mutation
Mutation, Missense
Transcription factors
USH2A protein
Whole Exome Sequencing
Title Recessive gene disruptions in autism spectrum disorder
URI https://link.springer.com/article/10.1038/s41588-019-0433-8
https://www.ncbi.nlm.nih.gov/pubmed/31209396
https://www.proquest.com/docview/2254485302
https://search.proquest.com/docview/2242811256
https://inserm.hal.science/inserm-03134922
https://pubmed.ncbi.nlm.nih.gov/PMC6629034
Volume 51
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