Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
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Gene-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.
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No genes have been identified that, when mutated, confer only ASD risk and not risk for ID or other NDDs.
“To date, no genes have been identified that, when mutated, confer only ASD risk and not risk for ID or other NDDs.”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [10]
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“Of interest are the 13 genes without DN mutation significance (SMARCC2, CTNND2, SIN3A, SCN1A, NFIA, CDKL5, DNAJC6, IQSEC2, IQGAP3, ADGRL2, ERBIN, NAV2, and AGPA2; Table 2) suggesting potential inherited risk factors 13,31,52 .”
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Nav2 hypomorphic mutant mice are ataxic and exhibit abnormalities in cerebellar development
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BOD1 Is Required for Cognitive Function in Humans and Drosophila
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Self-citation
- Authors
- Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T. N., Santen, G., Ruivenkamp, C., Kriek, M., van Haeringen, A., Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.-M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R. F., Vandeweyer, G., Helsmoortel, C., Romano, C., Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D. G., Scheffer, I. E., Delatycki, M. B., Lockhart, P. J., Hormozdiari, F., Harich, B., Castells-Nobau, A., Xia, K., Peeters, H., Nordenskjöld, M., Schenck, A., Bernier, R. A., & Eichler, E. E.
- Affiliations
- University of Washington (US)
- Central South University (CN)
- Karolinska University Hospital (SE)
- KU Leuven (BE)
- Leiden University Medical Center (NL)
- South Australia Pathology (AU)
- Women's and Children's Hospital (AU)
- Greenwood Genetic Center (US)
- University of Antwerp (BE)
- Oasi Maria SS (IT)
- University of California San Diego (US)
- University of California, Davis (US)
- Royal Children's Hospital (AU)
- Radboud University Nijmegen (NL)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Eichler, Evan E
- ORCID
- Stessman, Holly A F
- Xiong, Bo
- Coe, Bradley P
- Wang, Tianyun
- Hoekzema, Kendra
- Kvarnung, Malin
- Gerdts, Jennifer
- Cosemans, Nele
- Turner, Tychele N
- Santen, Gijs
- Ruivenkamp, Claudia
- Aten, Emmelien
- Friend, Kathryn
- Barnett, Christopher
- Haan, Eric
- Gecz, Jozef
- Anderlid, Britt-Marie
- Nordgren, Ann
- Lindstrand, Anna
- Schwartz, Charles
- Kooy, R Frank
- Vandeweyer, Geert
- Romano, Corrado
- Alberti, Antonino
- Vinci, Mirella
- Avola, Emanuela
- Pramparo, Tiziano
- Pierce, Karen
- Amaral, David G
- Scheffer, Ingrid E
- Delatycki, Martin B
- Lockhart, Paul J
- Hormozdiari, Fereydoun
- Xia, Kun
- Peeters, Hilde
- Nordenskjöld, Magnus
- Schenck, Annette
- Bernier, Raphael A
- Eichler, Evan E
- Venue
- Nature Genetics
- Published
- 2017-02-13
- Volume
- 49
- Issue
- 4
- Pages
- 515-526
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5374041
- OpenAlex
- W2589098519
- Cited by
- 559
- References
- 124
- Citations by year
- 2026: 31 · 2025: 43 · 2024: 73 · 2023: 42 · 2022: 82 · 2021: 63 · 2020: 73 · 2019: 65 · 2018: 51 · 2017: 33 · 2016: 1 · 2014: 1
- FWCI
- 40.30
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Lirias (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Simons Foundation Autism Research Initiative (SFARI 303241, 303241)
- Australian Government
- Channel 7 Children's Research Foundation (Channel 7 Children&apos)
- National Natural Science Foundation of China (81525007, 31400919, P40OD018537, 2012CB517900, 81330027)
- Stockholms Läns Landsting
- Vetenskapsrådet
- China Scholarship Council
- National Institutes of Health (KL2TR000099, KL2TR001444, NIH P40OD018537, P40OD018537)
- University of California, San Diego (1KL2TR001444)
- Medical Research Council
- National Health and Medical Research Council (1044175, 1006110, 1041920, 1091593)
- National Key Research and Development Program of China (2012CB517900)
- Fundamental Research Funds for the Central Universities
- National Institute of Mental Health (U24MH081810, R01MH101221)
- National Human Genome Research Institute (NIH P40OD018537, T32 HG-00035, T32HG000035)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD083091)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- neurodevelopmental disorders, autism spectrum disorder, intellectual disability, de novo mutations, disruptive mutations, candidate genes, high-functioning autism, gene networks, NAA15, ASH1L, syndromic disorders
- MeSH terms
- Autistic Disorder, Developmental Disabilities, Female, Humans, Male, Intellectual Disability, Mutation, Phenotype
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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