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Article: Recessive gene disruptions in autism spectrum disorder

TitleRecessive gene disruptions in autism spectrum disorder
Authors
Issue Date2019
PublisherNature Research (part of Springer Nature). The Journal's web site is located at http://www.nature.com/ng/
Citation
Nature Genetics, 2019, v. 51, p. 1092-1098 How to Cite?
AbstractAutism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2,3,4 and rare de novo variants5,6,7,8,9,10 in ASD. Recessive mutations have also been implicated11,12,13,14 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.
Persistent Identifierhttp://hdl.handle.net/10722/276086
ISSN
2023 Impact Factor: 31.7
2023 SCImago Journal Rankings: 17.300
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorDoan, RN-
dc.contributor.authorLim, ET-
dc.contributor.authorDe Rubeis, S-
dc.contributor.authorBetancur, C-
dc.contributor.authorCutler, DJ-
dc.contributor.authorChiocchetti, AG-
dc.contributor.authorOverman, LM-
dc.contributor.authorSoucy, A-
dc.contributor.authorGoetze, S-
dc.contributor.authorFreitag, CM-
dc.contributor.authorDaly, MJ-
dc.contributor.authorWalsh, CA-
dc.contributor.authorBuxbaum, JD-
dc.contributor.authorYu, TW-
dc.contributor.authorChung, BHY-
dc.date.accessioned2019-09-10T02:55:40Z-
dc.date.available2019-09-10T02:55:40Z-
dc.date.issued2019-
dc.identifier.citationNature Genetics, 2019, v. 51, p. 1092-1098-
dc.identifier.issn1061-4036-
dc.identifier.urihttp://hdl.handle.net/10722/276086-
dc.description.abstractAutism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2,3,4 and rare de novo variants5,6,7,8,9,10 in ASD. Recessive mutations have also been implicated11,12,13,14 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.-
dc.languageeng-
dc.publisherNature Research (part of Springer Nature). The Journal's web site is located at http://www.nature.com/ng/-
dc.relation.ispartofNature Genetics-
dc.rightsThis is a post-peer-review, pre-copyedit version of an article published in [insert journal title]. The final authenticated version is available online at: https://doi.org/[insert DOI]-
dc.titleRecessive gene disruptions in autism spectrum disorder-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/s41588-019-0433-8-
dc.identifier.pmid31209396-
dc.identifier.scopuseid_2-s2.0-85067884735-
dc.identifier.hkuros302473-
dc.identifier.volume51-
dc.identifier.spage1092-
dc.identifier.epage1098-
dc.identifier.isiWOS:000473491900007-
dc.publisher.placeUnited States-
dc.identifier.f1000736001656-
dc.identifier.issnl1061-4036-

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