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Article: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

TitleRates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Authors
Issue Date2017
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/neuro/
Citation
Nature Neuroscience, 2017, v. 20, p. 1217-1224 How to Cite?
AbstractWe systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 x 10(-6)), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 x 10(-3)). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.
Persistent Identifierhttp://hdl.handle.net/10722/280218
ISSN
2017 Impact Factor: 19.912
2015 SCImago Journal Rankings: 13.558
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLim, ET-
dc.contributor.authorUddin, M-
dc.contributor.authorDe Rubeis, S-
dc.contributor.authorChan, Y-
dc.contributor.authorKamumbu, AS-
dc.contributor.authorZhang, X-
dc.contributor.authorD'Gama, AM-
dc.contributor.authorKim, SN-
dc.contributor.authorHill, RS-
dc.contributor.authorGikdberg, AP-
dc.contributor.authorPoultney, C-
dc.contributor.authorMinshew, NJ-
dc.contributor.authorKushima, I-
dc.contributor.authorAleksic, B-
dc.contributor.authorOzaki, N-
dc.contributor.authorParellada, M-
dc.contributor.authorArango, C-
dc.contributor.authorPenzol, MJ-
dc.contributor.authorCarracedo, A-
dc.contributor.authorKolevzon, A-
dc.contributor.authorHultman, CM-
dc.contributor.authorWeiss, LA-
dc.contributor.authorFromer, M-
dc.contributor.authorChiocchetti, AG-
dc.contributor.authorFreitag, CM-
dc.contributor.authorChurch, GM-
dc.contributor.authorScherer, SW-
dc.contributor.authorBuxbaum, JD-
dc.contributor.authorWalsh, CA-
dc.contributor.authorAutism Sequencing Consortium-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-01-14T02:01:27Z-
dc.date.available2020-01-14T02:01:27Z-
dc.date.issued2017-
dc.identifier.citationNature Neuroscience, 2017, v. 20, p. 1217-1224-
dc.identifier.issn1097-6256-
dc.identifier.urihttp://hdl.handle.net/10722/280218-
dc.description.abstractWe systematically analyzed postzygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed resequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, 83.3% of which were not described in previous studies. Damaging, nonsynonymous PZMs within critical exons of prenatally expressed genes were more common in ASD probands than controls (P < 1 x 10(-6)), and genes carrying these PZMs were enriched for expression in the amygdala (P = 5.4 x 10(-3)). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.-
dc.languageeng-
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/neuro/-
dc.relation.ispartofNature Neuroscience-
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.titleRates, distribution and implications of postzygotic mosaic mutations 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/nn.4598-
dc.identifier.pmid28714951-
dc.identifier.pmcidPMC5672813-
dc.identifier.scopuseid_2-s2.0-85028454831-
dc.identifier.hkuros274582-
dc.identifier.volume20-
dc.identifier.spage1217-
dc.identifier.epage1224-
dc.identifier.isiWOS:000408587700008-
dc.publisher.placeUnited States-
dc.identifier.f1000727814152-

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