Recessive gene disruptions in autism spectrum disorder View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-06-17

AUTHORS

Ryan N. Doan, Elaine T. Lim, Silvia De Rubeis, Catalina Betancur, David J. Cutler, Andreas G. Chiocchetti, Lynne M. Overman, Aubrie Soucy, Susanne Goetze, Christine M. Freitag, Mark J. Daly, Christopher A. Walsh, Joseph D. Buxbaum, Timothy W. Yu

ABSTRACT

Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2–4 and rare de novo variants5–10 in ASD. Recessive mutations have also been implicated11–14 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. More... »

PAGES

1092-1098

References to SciGraph publications

  • 1989-06. Dicarboxylic aminoaciduria associated with mental retardation in HUMAN GENETICS
  • 2015-05-11. Excess of rare, inherited truncating mutations in autism in NATURE GENETICS
  • 2017-03-27. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies in HUMAN GENETICS
  • 2010-08. MutationTaster evaluates disease-causing potential of sequence alterations in NATURE METHODS
  • 2013-10-26. Changes in the expression of the glutamate transporter EAAT3/EAAC1 in health and disease in CELLULAR AND MOLECULAR LIFE SCIENCES
  • 2010-09-05. Pet-1 is required across different stages of life to regulate serotonergic function in NATURE NEUROSCIENCE
  • 2012-04-04. De novo mutations revealed by whole-exome sequencing are strongly associated with autism in NATURE
  • 2014-10-29. Synaptic, transcriptional and chromatin genes disrupted in autism in NATURE
  • 2014-01-16. The role of de novo mutations in the genetics of autism spectrum disorders in NATURE REVIEWS GENETICS
  • 2017-05-15. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders in NATURE GENETICS
  • 2016-03-21. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population in NATURE GENETICS
  • 2016-08-17. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2014-07-20. Most genetic risk for autism resides with common variation in NATURE GENETICS
  • 2010-04. A method and server for predicting damaging missense mutations in NATURE METHODS
  • Journal

    TITLE

    Nature Genetics

    ISSUE

    7

    VOLUME

    51

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41588-019-0433-8

    DOI

    http://dx.doi.org/10.1038/s41588-019-0433-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1117288834

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/31209396


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