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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

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dc.contributor.authorStessman, H.
dc.contributor.authorXiong, B.
dc.contributor.authorCoe, B.
dc.contributor.authorWang, T.
dc.contributor.authorHoekzema, K.
dc.contributor.authorFenckova, M.
dc.contributor.authorKvarnung, M.
dc.contributor.authorGerdts, J.
dc.contributor.authorTrinh, S.
dc.contributor.authorCosemans, N.
dc.contributor.authorVives, L.
dc.contributor.authorLin, J.
dc.contributor.authorTurner, T.
dc.contributor.authorSanten, G.
dc.contributor.authorRuivenkamp, C.
dc.contributor.authorKriek, M.
dc.contributor.authorVan Haeringen, A.
dc.contributor.authorAten, E.
dc.contributor.authorFriend, K.
dc.contributor.authorLiebelt, J.
dc.contributor.authoret al.
dc.date.issued2017
dc.description.abstractGene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
dc.description.statementofresponsibilityHolly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler
dc.identifier.citationNature Genetics, 2017; 49(4):515-526
dc.identifier.doi10.1038/ng.3792
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.orcidBarnett, C. [0000-0003-1717-3824]
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/105719
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/566759
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1044175
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1006110
dc.rights© 2017 Nature America, Inc., part of Springer Nature. All rights reserved.
dc.source.urihttps://doi.org/10.1038/ng.3792
dc.subjectHumans
dc.subjectAutistic Disorder
dc.subjectDevelopmental Disabilities
dc.subjectPhenotype
dc.subjectMutation
dc.subjectFemale
dc.subjectMale
dc.subjectIntellectual Disability
dc.titleTargeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
dc.typeJournal article
pubs.publication-statusPublished

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