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一个中国吉特曼综合征家系中SLC12A3基因的新型复合杂合突变。

A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome.

作者信息

Wang Xin, Ding Yu, Liu Qi, Yang Guocan

机构信息

Department of Rheumatology, Shaoxing People's Hospital (Shaoxing Hospital, Zhejiang University School of Medicine), 312000, Shaoxing, People's Republic of China.

Central Laboratory, Hangzhou First People's Hospital, Zhejiang University School of Medicine, 310006, Hangzhou, People's Republic of China.

出版信息

Endocrine. 2020 Mar;67(3):673-677. doi: 10.1007/s12020-019-02152-z. Epub 2019 Dec 5.

Abstract

PURPOSE

Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC). Here, we investigated the clinical manifestations and genetic features of a Chinese pedigree with GS.

METHODS

Next-generation sequencing and Sanger sequencing analysis were performed to define and confirm the SLC12A3 gene mutations of the patient (proband II:1) and this pedigree. Clinical manifestations and biochemical parameters were collected and analyzed.

RESULTS

Genetic analysis of the SLC12A3 gene identified two novel mutations in the proband, heterozygous (c.2842delT) and heterozygous (c.1569_1586del) mutation, respectively. Additionally, heterozygous (c.2842delT) mutation in SLC12A3 gene was found in his father and younger brother. The other heterozygous (c.1569_1586del) mutation in SLC12A3 gene was carried by his mother.

CONCLUSIONS

Two novel mutations may be related to the occurrence of the GS in the pedigree. However, additional studies are particularly required to explore the underlying molecular mechanisms.

摘要

目的

吉特林综合征(GS)是一种常染色体隐性肾小管疾病,其特征为盐耗竭和低钾血症,由编码噻嗪类敏感型氯化钠协同转运蛋白(NCC)的溶质载体家族12A3(SLC12A3)基因功能丧失性突变所致。在此,我们研究了一个中国GS家系的临床表现和遗传特征。

方法

采用二代测序和桑格测序分析来确定并证实患者(先证者II:1)及其家系的SLC12A3基因突变。收集并分析临床表现和生化参数。

结果

对SLC12A3基因的遗传分析在先证者中分别鉴定出两个新的突变,即杂合突变(c.2842delT)和杂合突变(c.1569_1586del)。此外,在其父亲和弟弟中发现了SLC12A3基因的杂合突变(c.2842delT)。其母亲携带SLC12A3基因的另一个杂合突变(c.1569_1586del)。

结论

两个新的突变可能与该家系中GS的发生有关。然而,特别需要进一步研究以探索潜在的分子机制。

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