Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome.
10.3760/cma.j.cn511374-20200520-00361
- Author:
Qian MA
1
;
Jinlin WU
;
Lingyi CHE
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@zzu.edu.cn.
- Publication Type:Journal Article
- MeSH:
China;
Gitelman Syndrome/genetics*;
Heterozygote;
Humans;
Mutation/genetics*;
Pedigree;
Solute Carrier Family 12, Member 3/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1368-1370
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).
METHODS:Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.
RESULTS:Sanger sequencing has revealed that the proband has carried a c.486_489 delTACG (p.Ile162Met fs*8) deletion and a heterozygous c.2890C>T (p.Arg964Trp) missense variant in the SLC12A3 gene. Neither variant was reported previously and was not found among healthy controls.
CONCLUSION: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.
