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Gepubliceerd in: Journal of Autism and Developmental Disorders 11/2017

30-08-2017 | Original Paper

Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder

Auteurs: Robin P. Goin-Kochel, Sandy Trinh, Shelley Barber, Raphael Bernier

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 11/2017

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Abstract

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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Metagegevens
Titel
Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder
Auteurs
Robin P. Goin-Kochel
Sandy Trinh
Shelley Barber
Raphael Bernier
Publicatiedatum
30-08-2017
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 11/2017
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-017-3256-4