PittsburghV1, Main, Exploration, bibRecord, 004463

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Identifieur interne : 004463 ( Main/Exploration ); précédent : 004462; suivant : 004464

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Auteurs : Shan Dong [République populaire de Chine, États-Unis] ; Michael F. Walker [États-Unis] ; Nicholas J. Carriero [États-Unis] ; Michael Dicola [États-Unis] ; A. Jeremy Willsey [États-Unis] ; Adam Y. Ye [République populaire de Chine] ; Zainulabedin Waqar [États-Unis] ; Luis E. Gonzalez [États-Unis] ; John D. Overton [États-Unis] ; Stephanie Frahm [États-Unis] ; John F. Keaney [États-Unis] ; Nicole A. Teran [États-Unis] ; Jeanselle Dea [États-Unis] ; Jeffrey D. Mandell [États-Unis] ; Vanessa Hus Bal [États-Unis] ; Catherine A. Sullivan [États-Unis] ; Nicholas M. Dilullo [États-Unis] ; Rehab O. Khalil [États-Unis, Égypte] ; Jake Gockley [États-Unis] ; Zafer Yuksel [Turquie] ; Sinem M. Sertel [Turquie] ; A. Gulhan Ercan-Sencicek [États-Unis] ; Abha R. Gupta [États-Unis] ; Shrikant M. Mane [États-Unis] ; Michael Sheldon [États-Unis] ; Andrew I. Brooks [États-Unis] ; Kathryn Roeder [États-Unis] ; Bernie Devlin [États-Unis] ; Matthew W. State [États-Unis] ; Liping Wei [République populaire de Chine] ; Stephan J. Sanders [États-Unis]

Source :

Cell reports [ 2211-1247 ] ; 2014.

RBID : PMC:4194132

Descripteurs français

English descriptors

KwdEn :
- Child, Child Development Disorders, Pervasive (blood), Child Development Disorders, Pervasive (diagnosis), Child Development Disorders, Pervasive (genetics), DNA (blood), DNA (genetics), DNA-Binding Proteins (genetics), Female, Fragile X Mental Retardation Protein (genetics), Frameshift Mutation, GTP-Binding Proteins (genetics), Humans, Male, Nerve Tissue Proteins (genetics), Pedigree, Phenotype, Sequence Deletion, Sex Factors.
MESH :
- chemical , blood : DNA.
- blood : Child Development Disorders, Pervasive.
- diagnosis : Child Development Disorders, Pervasive.
- genetics : Child Development Disorders, Pervasive, DNA, DNA-Binding Proteins, Fragile X Mental Retardation Protein, GTP-Binding Proteins, Nerve Tissue Proteins.
- Child, Female, Frameshift Mutation, Humans, Male, Pedigree, Phenotype, Sequence Deletion, Sex Factors.

Abstract

SUMMARY

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. Through the application of a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR=1.6; 95%CI=1.0-2.7; p=0.03), are more common in female probands (p=0.02), are enriched among genes encoding FMRP targets (p=6×10⁻⁹), and arise predominantly on the paternal chromosome (p<0.001). Based on mutation rates in probands versus unaffected siblings, de novo frameshift indels contribute to risk in approximately 3.0% of individuals with ASD. Finally, through observing clustering of mutations in unrelated probands, we report two novel ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194132

DOI: 10.1016/j.celrep.2014.08.068
PubMed: 25284784
PubMed Central: 4194132

Affiliations:

Le document en format XML

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 insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder</title>
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<author><name sortKey="Ye, Adam Y" sort="Ye, Adam Y" uniqKey="Ye A" first="Adam Y." last="Ye">Adam Y. Ye</name>
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<author><name sortKey="Gonzalez, Luis E" sort="Gonzalez, Luis E" uniqKey="Gonzalez L" first="Luis E." last="Gonzalez">Luis E. Gonzalez</name>
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<author><name sortKey="Frahm, Stephanie" sort="Frahm, Stephanie" uniqKey="Frahm S" first="Stephanie" last="Frahm">Stephanie Frahm</name>
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<author><name sortKey="Keaney, John F" sort="Keaney, John F" uniqKey="Keaney J" first="John F." last="Keaney">John F. Keaney</name>
<affiliation wicri:level="1"><nlm:aff id="A10">Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut 06520, USA.</nlm:aff>
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<wicri:regionArea>Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut 06520</wicri:regionArea>
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<author><name sortKey="Teran, Nicole A" sort="Teran, Nicole A" uniqKey="Teran N" first="Nicole A." last="Teran">Nicole A. Teran</name>
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<author><name sortKey="Dea, Jeanselle" sort="Dea, Jeanselle" uniqKey="Dea J" first="Jeanselle" last="Dea">Jeanselle Dea</name>
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<author><name sortKey="Bal, Vanessa Hus" sort="Bal, Vanessa Hus" uniqKey="Bal V" first="Vanessa Hus" last="Bal">Vanessa Hus Bal</name>
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<author><name sortKey="Sullivan, Catherine A" sort="Sullivan, Catherine A" uniqKey="Sullivan C" first="Catherine A." last="Sullivan">Catherine A. Sullivan</name>
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<author><name sortKey="Dilullo, Nicholas M" sort="Dilullo, Nicholas M" uniqKey="Dilullo N" first="Nicholas M." last="Dilullo">Nicholas M. Dilullo</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Khalil, Rehab O" sort="Khalil, Rehab O" uniqKey="Khalil R" first="Rehab O." last="Khalil">Rehab O. Khalil</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
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<affiliation wicri:level="1"><nlm:aff id="A11">Department of Research on Children with Special Needs, National Research Center, Cairo, 11787, Egypt.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Égypte</country>
<wicri:regionArea>Department of Research on Children with Special Needs, National Research Center, Cairo, 11787</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Gockley, Jake" sort="Gockley, Jake" uniqKey="Gockley J" first="Jake" last="Gockley">Jake Gockley</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
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<author><name sortKey="Yuksel, Zafer" sort="Yuksel, Zafer" uniqKey="Yuksel Z" first="Zafer" last="Yuksel">Zafer Yuksel</name>
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<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, 06010</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Sertel, Sinem M" sort="Sertel, Sinem M" uniqKey="Sertel S" first="Sinem M." last="Sertel">Sinem M. Sertel</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Bilkent University, Molecular Biology and Genetics 06800, Ankara, Turkey.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Bilkent University, Molecular Biology and Genetics 06800, Ankara</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Ercan Sencicek, A Gulhan" sort="Ercan Sencicek, A Gulhan" uniqKey="Ercan Sencicek A" first="A. Gulhan" last="Ercan-Sencicek">A. Gulhan Ercan-Sencicek</name>
<affiliation wicri:level="1"><nlm:aff id="A14">Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
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<wicri:regionArea>Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gupta, Abha R" sort="Gupta, Abha R" uniqKey="Gupta A" first="Abha R." last="Gupta">Abha R. Gupta</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="A15">Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Mane, Shrikant M" sort="Mane, Shrikant M" uniqKey="Mane S" first="Shrikant M." last="Mane">Shrikant M. Mane</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
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<wicri:regionArea>Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Sheldon, Michael" sort="Sheldon, Michael" uniqKey="Sheldon M" first="Michael" last="Sheldon">Michael Sheldon</name>
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<wicri:regionArea>Department of Genetics and the Human Genetics Institute, Rutgers University, 145 Bevier Road, Room 136, Piscataway, New Jersey 08854</wicri:regionArea>
<orgName type="university">Université Rutgers</orgName>
<placeName><settlement type="city">New Brunswick (New Jersey)</settlement>
<region type="state">New Jersey</region>
</placeName>
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</author>
<author><name sortKey="Brooks, Andrew I" sort="Brooks, Andrew I" uniqKey="Brooks A" first="Andrew I." last="Brooks">Andrew I. Brooks</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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</author>
<author><name sortKey="Roeder, Kathryn" sort="Roeder, Kathryn" uniqKey="Roeder K" first="Kathryn" last="Roeder">Kathryn Roeder</name>
<affiliation wicri:level="4"><nlm:aff id="A17">Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<orgName type="university">Université Carnegie-Mellon</orgName>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A18">Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<orgName type="university">Université Carnegie-Mellon</orgName>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
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<author><name sortKey="Devlin, Bernie" sort="Devlin, Bernie" uniqKey="Devlin B" first="Bernie" last="Devlin">Bernie Devlin</name>
<affiliation wicri:level="1"><nlm:aff id="A19">Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<wicri:noRegion>Pennsylvania 15213</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
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<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
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<author><name sortKey="Wei, Liping" sort="Wei, Liping" uniqKey="Wei L" first="Liping" last="Wei">Liping Wei</name>
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<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
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</placeName>
<orgName type="university">Université de Pékin</orgName>
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<affiliation wicri:level="1"><nlm:aff id="A6">National Institute of Biological Sciences, Beijing 102206, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>National Institute of Biological Sciences, Beijing 102206</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Sanders, Stephan J" sort="Sanders, Stephan J" uniqKey="Sanders S" first="Stephan J." last="Sanders">Stephan J. Sanders</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>De novo</italic>
 insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder</title>
<author><name sortKey="Dong, Shan" sort="Dong, Shan" uniqKey="Dong S" first="Shan" last="Dong">Shan Dong</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871</wicri:regionArea>
<placeName><settlement type="city">Pékin</settlement>
<settlement type="city">Pékin</settlement>
</placeName>
<orgName type="university">Université de Pékin</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Walker, Michael F" sort="Walker, Michael F" uniqKey="Walker M" first="Michael F." last="Walker">Michael F. Walker</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carriero, Nicholas J" sort="Carriero, Nicholas J" uniqKey="Carriero N" first="Nicholas J." last="Carriero">Nicholas J. Carriero</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Biomedical High Performance Computing Center, W. M. Keck Biotechnology Resource Laboratory, and Department of Computer Science, Yale University, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Biomedical High Performance Computing Center, W. M. Keck Biotechnology Resource Laboratory, and Department of Computer Science, Yale University, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dicola, Michael" sort="Dicola, Michael" uniqKey="Dicola M" first="Michael" last="Dicola">Michael Dicola</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854</wicri:regionArea>
<wicri:noRegion>New Jersey 08854</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Willsey, A Jeremy" sort="Willsey, A Jeremy" uniqKey="Willsey A" first="A. Jeremy" last="Willsey">A. Jeremy Willsey</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ye, Adam Y" sort="Ye, Adam Y" uniqKey="Ye A" first="Adam Y." last="Ye">Adam Y. Ye</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871</wicri:regionArea>
<placeName><settlement type="city">Pékin</settlement>
<settlement type="city">Pékin</settlement>
</placeName>
<orgName type="university">Université de Pékin</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">National Institute of Biological Sciences, Beijing 102206, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>National Institute of Biological Sciences, Beijing 102206</wicri:regionArea>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Waqar, Zainulabedin" sort="Waqar, Zainulabedin" uniqKey="Waqar Z" first="Zainulabedin" last="Waqar">Zainulabedin Waqar</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gonzalez, Luis E" sort="Gonzalez, Luis E" uniqKey="Gonzalez L" first="Luis E." last="Gonzalez">Luis E. Gonzalez</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Overton, John D" sort="Overton, John D" uniqKey="Overton J" first="John D." last="Overton">John D. Overton</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A9">Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, New York 10591, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Regeneron Genetics Center, 777 Old Saw Mill River Road, Tarrytown, New York 10591</wicri:regionArea>
<wicri:noRegion>New York 10591</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Frahm, Stephanie" sort="Frahm, Stephanie" uniqKey="Frahm S" first="Stephanie" last="Frahm">Stephanie Frahm</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854</wicri:regionArea>
<wicri:noRegion>New Jersey 08854</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Keaney, John F" sort="Keaney, John F" uniqKey="Keaney J" first="John F." last="Keaney">John F. Keaney</name>
<affiliation wicri:level="1"><nlm:aff id="A10">Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Teran, Nicole A" sort="Teran, Nicole A" uniqKey="Teran N" first="Nicole A." last="Teran">Nicole A. Teran</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dea, Jeanselle" sort="Dea, Jeanselle" uniqKey="Dea J" first="Jeanselle" last="Dea">Jeanselle Dea</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mandell, Jeffrey D" sort="Mandell, Jeffrey D" uniqKey="Mandell J" first="Jeffrey D." last="Mandell">Jeffrey D. Mandell</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bal, Vanessa Hus" sort="Bal, Vanessa Hus" uniqKey="Bal V" first="Vanessa Hus" last="Bal">Vanessa Hus Bal</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sullivan, Catherine A" sort="Sullivan, Catherine A" uniqKey="Sullivan C" first="Catherine A." last="Sullivan">Catherine A. Sullivan</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dilullo, Nicholas M" sort="Dilullo, Nicholas M" uniqKey="Dilullo N" first="Nicholas M." last="Dilullo">Nicholas M. Dilullo</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Khalil, Rehab O" sort="Khalil, Rehab O" uniqKey="Khalil R" first="Rehab O." last="Khalil">Rehab O. Khalil</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A11">Department of Research on Children with Special Needs, National Research Center, Cairo, 11787, Egypt.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Égypte</country>
<wicri:regionArea>Department of Research on Children with Special Needs, National Research Center, Cairo, 11787</wicri:regionArea>
<wicri:noRegion>11787</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gockley, Jake" sort="Gockley, Jake" uniqKey="Gockley J" first="Jake" last="Gockley">Jake Gockley</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yuksel, Zafer" sort="Yuksel, Zafer" uniqKey="Yuksel Z" first="Zafer" last="Yuksel">Zafer Yuksel</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, 06010, Turkey.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, 06010</wicri:regionArea>
<wicri:noRegion>06010</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sertel, Sinem M" sort="Sertel, Sinem M" uniqKey="Sertel S" first="Sinem M." last="Sertel">Sinem M. Sertel</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Bilkent University, Molecular Biology and Genetics 06800, Ankara, Turkey.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Bilkent University, Molecular Biology and Genetics 06800, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ercan Sencicek, A Gulhan" sort="Ercan Sencicek, A Gulhan" uniqKey="Ercan Sencicek A" first="A. Gulhan" last="Ercan-Sencicek">A. Gulhan Ercan-Sencicek</name>
<affiliation wicri:level="1"><nlm:aff id="A14">Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gupta, Abha R" sort="Gupta, Abha R" uniqKey="Gupta A" first="Abha R." last="Gupta">Abha R. Gupta</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mane, Shrikant M" sort="Mane, Shrikant M" uniqKey="Mane S" first="Shrikant M." last="Mane">Shrikant M. Mane</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Yale Center for Genomic Analysis, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sheldon, Michael" sort="Sheldon, Michael" uniqKey="Sheldon M" first="Michael" last="Sheldon">Michael Sheldon</name>
<affiliation wicri:level="4"><nlm:aff id="A16">Department of Genetics and the Human Genetics Institute, Rutgers University, 145 Bevier Road, Room 136, Piscataway, New Jersey 08854, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics and the Human Genetics Institute, Rutgers University, 145 Bevier Road, Room 136, Piscataway, New Jersey 08854</wicri:regionArea>
<orgName type="university">Université Rutgers</orgName>
<placeName><settlement type="city">New Brunswick (New Jersey)</settlement>
<region type="state">New Jersey</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brooks, Andrew I" sort="Brooks, Andrew I" uniqKey="Brooks A" first="Andrew I." last="Brooks">Andrew I. Brooks</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Bionomics Research & Technology, Environmental and Occupational Health Sciences Institute, Rutgers, The State University of New Jersey, 170 Frelinghuysen Road, Piscataway, New Jersey 08854, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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<wicri:noRegion>New Jersey 08854</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roeder, Kathryn" sort="Roeder, Kathryn" uniqKey="Roeder K" first="Kathryn" last="Roeder">Kathryn Roeder</name>
<affiliation wicri:level="4"><nlm:aff id="A17">Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<orgName type="university">Université Carnegie-Mellon</orgName>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A18">Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Ray and Stephanie Lane Center for Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<orgName type="university">Université Carnegie-Mellon</orgName>
<placeName><settlement type="city">Pittsburgh</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Devlin, Bernie" sort="Devlin, Bernie" uniqKey="Devlin B" first="Bernie" last="Devlin">Bernie Devlin</name>
<affiliation wicri:level="1"><nlm:aff id="A19">Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213</wicri:regionArea>
<wicri:noRegion>Pennsylvania 15213</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A7">Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A20">Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wei, Liping" sort="Wei, Liping" uniqKey="Wei L" first="Liping" last="Wei">Liping Wei</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871</wicri:regionArea>
<placeName><settlement type="city">Pékin</settlement>
<settlement type="city">Pékin</settlement>
</placeName>
<orgName type="university">Université de Pékin</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">National Institute of Biological Sciences, Beijing 102206, People’s Republic of China.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">République populaire de Chine</country>
<wicri:regionArea>National Institute of Biological Sciences, Beijing 102206</wicri:regionArea>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanders, Stephan J" sort="Sanders, Stephan J" uniqKey="Sanders S" first="Stephan J." last="Sanders">Stephan J. Sanders</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520</wicri:regionArea>
<wicri:noRegion>Connecticut 06520</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158</wicri:regionArea>
<wicri:noRegion>California 94158</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Cell reports</title>
<idno type="eISSN">2211-1247</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Child Development Disorders, Pervasive (blood)</term>
<term>Child Development Disorders, Pervasive (diagnosis)</term>
<term>Child Development Disorders, Pervasive (genetics)</term>
<term>DNA (blood)</term>
<term>DNA (genetics)</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Female</term>
<term>Fragile X Mental Retardation Protein (genetics)</term>
<term>Frameshift Mutation</term>
<term>GTP-Binding Proteins (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Sequence Deletion</term>
<term>Sex Factors</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ADN (génétique)</term>
<term>ADN (sang)</term>
<term>Délétion de séquence</term>
<term>Enfant</term>
<term>Facteurs sexuels</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation avec décalage du cadre de lecture</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
<term>Protéine du syndrome X fragile (génétique)</term>
<term>Protéines G (génétique)</term>
<term>Protéines de liaison à l'ADN (génétique)</term>
<term>Protéines de tissu nerveux (génétique)</term>
<term>Troubles généralisés du développement de l'enfant (diagnostic)</term>
<term>Troubles généralisés du développement de l'enfant (génétique)</term>
<term>Troubles généralisés du développement de l'enfant (sang)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>DNA</term>
</keywords>
<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Child Development Disorders, Pervasive</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Child Development Disorders, Pervasive</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Troubles généralisés du développement de l'enfant</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Child Development Disorders, Pervasive</term>
<term>DNA</term>
<term>DNA-Binding Proteins</term>
<term>Fragile X Mental Retardation Protein</term>
<term>GTP-Binding Proteins</term>
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>ADN</term>
<term>Protéine du syndrome X fragile</term>
<term>Protéines G</term>
<term>Protéines de liaison à l'ADN</term>
<term>Protéines de tissu nerveux</term>
<term>Troubles généralisés du développement de l'enfant</term>
</keywords>
<keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>ADN</term>
<term>Troubles généralisés du développement de l'enfant</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Female</term>
<term>Frameshift Mutation</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Sequence Deletion</term>
<term>Sex Factors</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Délétion de séquence</term>
<term>Enfant</term>
<term>Facteurs sexuels</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation avec décalage du cadre de lecture</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><title>SUMMARY</title>
<p id="P1">Whole-exome sequencing (WES) studies have demonstrated the contribution of <italic>de novo</italic>
 loss-of-function single nucleotide variants to autism spectrum disorders (ASD). However, challenges in the reliable detection of <italic>de novo</italic>
 insertions and deletions (indels) have limited inclusion of these variants in prior analyses. Through the application of a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that <italic>de novo</italic>
 frameshift indels contribute to ASD risk (OR=1.6; 95%CI=1.0-2.7; p=0.03), are more common in female probands (p=0.02), are enriched among genes encoding FMRP targets (p=6×10<sup>−9</sup>
), and arise predominantly on the paternal chromosome (p<0.001). Based on mutation rates in probands versus unaffected siblings, <italic>de novo</italic>
 frameshift indels contribute to risk in approximately 3.0% of individuals with ASD. Finally, through observing clustering of mutations in unrelated probands, we report two novel ASD-associated genes: <italic>KMT2E</italic>
 (<italic>MLL5</italic>
), a chromatin regulator, and <italic>RIMS1,</italic>
 a regulator of synaptic vesicle release.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>République populaire de Chine</li>
<li>Turquie</li>
<li>Égypte</li>
<li>États-Unis</li>
</country>
<region><li>New Jersey</li>
<li>Pennsylvanie</li>
</region>
<settlement><li>New Brunswick (New Jersey)</li>
<li>Pittsburgh</li>
<li>Pékin</li>
</settlement>
<orgName><li>Université Carnegie-Mellon</li>
<li>Université Rutgers</li>
<li>Université de Pékin</li>
</orgName>
</list>
<tree><country name="République populaire de Chine"><noRegion><name sortKey="Dong, Shan" sort="Dong, Shan" uniqKey="Dong S" first="Shan" last="Dong">Shan Dong</name>
</noRegion>
<name sortKey="Wei, Liping" sort="Wei, Liping" uniqKey="Wei L" first="Liping" last="Wei">Liping Wei</name>
<name sortKey="Wei, Liping" sort="Wei, Liping" uniqKey="Wei L" first="Liping" last="Wei">Liping Wei</name>
<name sortKey="Ye, Adam Y" sort="Ye, Adam Y" uniqKey="Ye A" first="Adam Y." last="Ye">Adam Y. Ye</name>
<name sortKey="Ye, Adam Y" sort="Ye, Adam Y" uniqKey="Ye A" first="Adam Y." last="Ye">Adam Y. Ye</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Dong, Shan" sort="Dong, Shan" uniqKey="Dong S" first="Shan" last="Dong">Shan Dong</name>
</noRegion>
<name sortKey="Bal, Vanessa Hus" sort="Bal, Vanessa Hus" uniqKey="Bal V" first="Vanessa Hus" last="Bal">Vanessa Hus Bal</name>
<name sortKey="Brooks, Andrew I" sort="Brooks, Andrew I" uniqKey="Brooks A" first="Andrew I." last="Brooks">Andrew I. Brooks</name>
<name sortKey="Carriero, Nicholas J" sort="Carriero, Nicholas J" uniqKey="Carriero N" first="Nicholas J." last="Carriero">Nicholas J. Carriero</name>
<name sortKey="Dea, Jeanselle" sort="Dea, Jeanselle" uniqKey="Dea J" first="Jeanselle" last="Dea">Jeanselle Dea</name>
<name sortKey="Devlin, Bernie" sort="Devlin, Bernie" uniqKey="Devlin B" first="Bernie" last="Devlin">Bernie Devlin</name>
<name sortKey="Dicola, Michael" sort="Dicola, Michael" uniqKey="Dicola M" first="Michael" last="Dicola">Michael Dicola</name>
<name sortKey="Dilullo, Nicholas M" sort="Dilullo, Nicholas M" uniqKey="Dilullo N" first="Nicholas M." last="Dilullo">Nicholas M. Dilullo</name>
<name sortKey="Ercan Sencicek, A Gulhan" sort="Ercan Sencicek, A Gulhan" uniqKey="Ercan Sencicek A" first="A. Gulhan" last="Ercan-Sencicek">A. Gulhan Ercan-Sencicek</name>
<name sortKey="Frahm, Stephanie" sort="Frahm, Stephanie" uniqKey="Frahm S" first="Stephanie" last="Frahm">Stephanie Frahm</name>
<name sortKey="Gockley, Jake" sort="Gockley, Jake" uniqKey="Gockley J" first="Jake" last="Gockley">Jake Gockley</name>
<name sortKey="Gonzalez, Luis E" sort="Gonzalez, Luis E" uniqKey="Gonzalez L" first="Luis E." last="Gonzalez">Luis E. Gonzalez</name>
<name sortKey="Gupta, Abha R" sort="Gupta, Abha R" uniqKey="Gupta A" first="Abha R." last="Gupta">Abha R. Gupta</name>
<name sortKey="Gupta, Abha R" sort="Gupta, Abha R" uniqKey="Gupta A" first="Abha R." last="Gupta">Abha R. Gupta</name>
<name sortKey="Keaney, John F" sort="Keaney, John F" uniqKey="Keaney J" first="John F." last="Keaney">John F. Keaney</name>
<name sortKey="Khalil, Rehab O" sort="Khalil, Rehab O" uniqKey="Khalil R" first="Rehab O." last="Khalil">Rehab O. Khalil</name>
<name sortKey="Mandell, Jeffrey D" sort="Mandell, Jeffrey D" uniqKey="Mandell J" first="Jeffrey D." last="Mandell">Jeffrey D. Mandell</name>
<name sortKey="Mane, Shrikant M" sort="Mane, Shrikant M" uniqKey="Mane S" first="Shrikant M." last="Mane">Shrikant M. Mane</name>
<name sortKey="Overton, John D" sort="Overton, John D" uniqKey="Overton J" first="John D." last="Overton">John D. Overton</name>
<name sortKey="Overton, John D" sort="Overton, John D" uniqKey="Overton J" first="John D." last="Overton">John D. Overton</name>
<name sortKey="Roeder, Kathryn" sort="Roeder, Kathryn" uniqKey="Roeder K" first="Kathryn" last="Roeder">Kathryn Roeder</name>
<name sortKey="Roeder, Kathryn" sort="Roeder, Kathryn" uniqKey="Roeder K" first="Kathryn" last="Roeder">Kathryn Roeder</name>
<name sortKey="Sanders, Stephan J" sort="Sanders, Stephan J" uniqKey="Sanders S" first="Stephan J." last="Sanders">Stephan J. Sanders</name>
<name sortKey="Sanders, Stephan J" sort="Sanders, Stephan J" uniqKey="Sanders S" first="Stephan J." last="Sanders">Stephan J. Sanders</name>
<name sortKey="Sheldon, Michael" sort="Sheldon, Michael" uniqKey="Sheldon M" first="Michael" last="Sheldon">Michael Sheldon</name>
<name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<name sortKey="State, Matthew W" sort="State, Matthew W" uniqKey="State M" first="Matthew W." last="State">Matthew W. State</name>
<name sortKey="Sullivan, Catherine A" sort="Sullivan, Catherine A" uniqKey="Sullivan C" first="Catherine A." last="Sullivan">Catherine A. Sullivan</name>
<name sortKey="Teran, Nicole A" sort="Teran, Nicole A" uniqKey="Teran N" first="Nicole A." last="Teran">Nicole A. Teran</name>
<name sortKey="Walker, Michael F" sort="Walker, Michael F" uniqKey="Walker M" first="Michael F." last="Walker">Michael F. Walker</name>
<name sortKey="Waqar, Zainulabedin" sort="Waqar, Zainulabedin" uniqKey="Waqar Z" first="Zainulabedin" last="Waqar">Zainulabedin Waqar</name>
<name sortKey="Willsey, A Jeremy" sort="Willsey, A Jeremy" uniqKey="Willsey A" first="A. Jeremy" last="Willsey">A. Jeremy Willsey</name>
<name sortKey="Willsey, A Jeremy" sort="Willsey, A Jeremy" uniqKey="Willsey A" first="A. Jeremy" last="Willsey">A. Jeremy Willsey</name>
</country>
<country name="Égypte"><noRegion><name sortKey="Khalil, Rehab O" sort="Khalil, Rehab O" uniqKey="Khalil R" first="Rehab O." last="Khalil">Rehab O. Khalil</name>
</noRegion>
</country>
<country name="Turquie"><noRegion><name sortKey="Yuksel, Zafer" sort="Yuksel, Zafer" uniqKey="Yuksel Z" first="Zafer" last="Yuksel">Zafer Yuksel</name>
</noRegion>
<name sortKey="Sertel, Sinem M" sort="Sertel, Sinem M" uniqKey="Sertel S" first="Sinem M." last="Sertel">Sinem M. Sertel</name>
</country>
</tree>
</affiliations>
</record>

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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

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