错义突变
移码突变
压电1
无义突变
胡说
医学
胎儿水肿
怀孕
淋巴水肿
突变
胎儿
病理
遗传学
内科学
生物
基因
受体
离子通道
癌症
乳腺癌
机械敏感通道
作者
Shuai Han,Xin Guo,Xiaogang Wang,Huijun Lin,Yiqi Yu,Jing Shu,Minyue Dong,Liwei Yang
标识
DOI:10.3389/fgene.2022.856046
摘要
Lymphatic malformation-6 (LMPHM6) is a rarer form of nonimmune hydrops that often manifests as widespread lymphedema involving all segments of the body, namely, subcutaneous edema, intestinal/pulmonary lymphangiectasia, chylothoraces, and pleural/pericardial effusions. Here, we detected one rare and previously unobserved homozygous missense variant in PIEZO1 (c.5162C>G, p.Ser1721Trp) as a novel genetic cause of autosomal recessive LMPHM6, in a family with three adverse pregnancy outcomes due to nonimmune fetal hydrops. Although, the loss-of-function mutations such as those usually including nonsense, frameshift, splice site, and also fewer missense variants in PIEZO1 have been proved to lead to LMPHM6, among these, the biallelic homozygous mutations resulting in the loss of function of PIEZO1 have not been reported before. Here, we first strongly implicated impaired PIEZO1 function–associated LMPHM6 with a homozygous missense mutation in PIEZO1 .
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