Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.

Yingchen WangQing ChenFeng ZhangXi YangLingyue ShangShuting RenYuncheng PanZixue ZhouGuoqing LiYunzheng FangLi JinYanhua WuXiaojin Zhang

Published in: Molecular genetics & genomic medicine (2021)

A rare heterozygous nonsense WT1 mutant is associated with non-syndromic POI and Wilms' tumor. Our finding characterized another pathogenic WT1 variant, providing insight into genetic counseling.

Keyphrases

intellectual disability
early onset
case report
genome wide
smoking cessation
copy number
autism spectrum disorder
gene expression
dna methylation
human immunodeficiency virus