A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.

Dan WangDongjie HuZhichao GuoRong HuQunxian WangYannan LiuMingjing LiuZijun MengHuan YangYun ZhangFang CaiWeihui ZhouWeihong Song

Published in: Molecular genetics & genomic medicine (2019)

Female heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker-Wolff syndrome and our study provides a potential new target for the disease treatment.

Keyphrases

early onset
human health
risk assessment
amino acid
climate change