Functional characterization of rare FOXP2 variants in neurodevelopmental disorder.

ABSTRACT:

Background

Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encodes a transcription factor with a forkhead box DNA-binding domain, but little is known about the functions of protein regions outside this domain.

Methods

We performed detailed functional analyses of seven rare FOXP2 variants found in affected cases, including three which have not been previously characterized, testing intracellular localization, transcriptional regulation, dimerization, and interaction with other proteins. To shed further light on molecular func

SUBMITTER: Estruch SB 

PROVIDER: S-EPMC5126810 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature