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. 2017 Jun;62(6):657-659.
doi: 10.1038/jhg.2017.16. Epub 2017 Mar 9.

Prevalence of four Mendelian disorders associated with autism in 2392 affected families

Avi Saskin  1 , Vanessa Fulginiti  1 , Ashley H Birch  2 , Yannis Trakadis  1
Affiliations

Prevalence of four Mendelian disorders associated with autism in 2392 affected families

Avi Saskin et al. J Hum Genet. 2017 Jun.

Abstract

Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research. Seven patients carried a pathogenic or likely pathogenic variant in either TSC1, TSC2, PTEN, DHCR7 or MECP2, with 6 out of 7 reportable variants occurring in PTEN (1 in 399).

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