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ERIC Number: EJ1156928
Record Type: Journal
Publication Date: 2017-Nov
Pages: 8
Abstractor: As Provided
ISSN: ISSN-0162-3257
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder
Goin-Kochel, Robin P.; Trinh, Sandy; Barber, Shelley; Bernier, Raphael
Journal of Autism and Developmental Disorders, v47 n11 p3600-3607 Nov 2017
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were "more" likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were "less" likely to have skill losses.
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: National Institute of Mental Health (DHHS/NIH)
Authoring Institution: N/A
Grant or Contract Numbers: R01MH100047