A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.

Fengchang QiaoChen WangChunyu LuoYan WangBinbin ShaoJianxin TanPing HuZhengfeng Xu

Published in: Molecular genetics & genomic medicine (2019)

This is the first report of NDD caused by a BCL11B variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum of BCL11B and might help in genetic counseling and reducing reproductive risk.

Keyphrases

healthcare
early onset
genome wide
gene expression
smoking cessation
human immunodeficiency virus
hiv testing