[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].

The c.486_489delTACG (p.Ile162Met fs*8) and c.2890C>T (p.Arg964Trp) variants of the SLC12A3 gene probably underlay the GS in the proband. Above discovery has enriched the variant spectrum of GS.