Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

ABSTRACT:

Background

Forkhead box (FOX) proteins are a family of transcription factors. Mutations of three FOX genes, including FOXP1, FOXP2, and FOXG1, have been reported in neurodevelopmental disorders (NDDs). However, due to the lack of site-specific statistical significance, the pathogenicity of missense mutations of these genes is difficult to determine.

Methods

DNA and RNA were extracted from peripheral blood lymphocytes. The mutation was detected by single-molecule molecular inversion probe-based targeted sequencing, and the variant was validated by Sanger sequencing. Real-time quantitative PCR and western blot were performed to assay the expression of the mRNA and protein. To assess the pattern of disorder-related missense mutations of NDD-related FOX genes, we manually curate

SUBMITTER: Han L 

PROVIDER: S-EPMC6625093 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature