Gitelman syndrome caused by SLC12A3 gene mutations: a report of pedigree analysis
10.3969/j.issn.1000-3606.2017.01.009
- VernacularTitle:SLC12A3基因新突变致Gitelman综合征一家系报告
- Author:
Yang YANG
;
Jihong XIAO
- Keywords:
SLC12A3 gene;
Gitelman syndrome;
child
- From:
Journal of Clinical Pediatrics
2017;35(1):33-36
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the gene diagnosis of Gitelman syndrome.Methods The clinical data of a child with Gitelman syndrome were retrospectively analyzed along with gene detection results of his elder sister and parents.Results A 6-year-old boy was hospitalized for fever and hypokalemia.Gene detection of SLC12A found a new locus mutation of EXON21 c.2522A＞G p.(Asp841Gly) and a heterozygosis of EXON16 c.1946C＞T p.(Thr649Met).The diagnosis of Gitelman syndrome was confirmed.His mother carried a heterozygosis mutation of EXON21 c.2522A＞G p.(Asp841Gly),while his father and elder sister carried a heterozygosis mutation of EXON16 c.1946C＞T p.(Thr649Met).Conclusion Gene detection of SLC12A is helpful in the diagnosis of Gitelman syndrome.The newly discovered mutation of SLC12A3 gene has enriched the mutation spectrum of Gitelman syndrome.
