Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.

ABSTRACT:

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Background

Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype.

Methods

We surveyed two loci with known rare variants that contribute to ASD, the X

SUBMITTER: Steinberg KM 

PROVIDER: S-EPMC3492087 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature