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Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.

Genes - 29 Aug 2022

Sun Jing-Jing, Cai Qin, Xu Miao, Liu Yan-Na, Li Wan-Rui, Li Juan, Ma Li, Cai Cheng, Gong Xiao-Hui, Zeng Yi-Tao, Ren Zhao-Rui, Zeng Fanyi

Abstract excerpt

Pathogenic variants of zinc finger C4H2-type containing (ZC4H2) on the X chromosome cause a group of genetic diseases termed ZC4H2-associated rare disorders (ZARD), including Wieacker-Wolff Syndrome (WRWF) and Female-restricted Wieacker-Wolff Syndrome (WRWFFR). In the current study, a de novo c.352C>T (p.Gln118*) mutation in ZC4H2 (NM_018684.4) was identified in a female neonate born with severe arthrogryposis...

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PMID: 36140726
DOI: 10.3390/genes13091558
PMCID: PMC9498907

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