Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

ABSTRACT:

Purpose

Recurrent 16p11.2 duplications produce a wide range of clinical outcomes with varying effects on cognition and social functioning. Family-based studies of copy number variants (CNVs) have revealed significant contributions of genomic background on variable expressivity. In this study, we measured the phenotypic effect of 16p11.2 duplications and quantified the modulating effect of familial background on cognitive and social outcomes.

Methods

Genomic and clinical data were ascertained from 41 probands with a 16p11.2 duplication and their first-degree relatives. Paired comparisons were completed to determine the duplication's effect on expected vs actual performance on standardized tests of intelligence (IQ) and social functioning (Social Responsiveness Scale-2). Intra

SUBMITTER: Taylor CM 

PROVIDER: S-EPMC10068678 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature