A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.

ABSTRACT:

Background

Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees.

Methods

ASD and BAP were assessed using standardized tools in 28 pedigrees from Canada and the USA, each with at least three ASD-diagnosed individuals from two nuclear families. Genome-wide linkage analysis was performed using the posterior proba

SUBMITTER: Woodbury-Smith M 

PROVIDER: S-EPMC5996536 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature