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

Lin HanMeilin ChenYazhe WangHuidan WuYingting QuanTing BaiKuokuo LiGuiqin DuanYan GaoZhengmao HuKun Xia Hui Guo

Published in: Molecular genetics & genomic medicine (2019)

Our study shows the pathogenicity of missense and inframeshift variants of NDD-related FOX genes, which is important for clinical diagnosis and genetic counseling. Functional analysis is needed to determine the pathogenicity of the variants with uncertain clinical significance.

Keyphrases

genome wide
copy number
transcription factor
intellectual disability
genome wide identification
bioinformatics analysis
autism spectrum disorder
binding protein
escherichia coli
hepatitis c virus
men who have sex with men
drug induced