国际生殖健康/计划生育杂志2025，Vol.44Issue(5)：366-370,387,6.DOI:10.12280/gjszjk.20250134
二例SLC12A3基因复合杂合变异所致Gitelman综合征的遗传学分析
Genetic Analysis of Two Cases of Gitelman Syndrome Caused by Compound Heterozygous Variations in the SLC12A3 Gene
陈雪 1田芯瑗 1郑雷 1马盼盼 1张钏 1惠玲 1周秉博1
作者信息
- 1. 730050 兰州,甘肃省妇幼保健院(甘肃省中心医院)医学遗传中心,甘肃省出生缺陷与罕见病临床研究中心
- 折叠
摘要
Abstract
Objective:To summarize the experience of molecular genetic analysis of two patients with Gitelman syndrome.Methods:Two patients admitted to our hospital due to recurrent hypokalemia were highly suspected as Gitelman syndrome in clinical.Peripheral venous blood samples were collected from the patients and their parents.Genomic DNA was extracted and analyzed by whole exome sequencing(WES).Results:The trio-WES analysis showed that two patients had the compound heterozygous variations in the SLC12A3 gene.The variation sites were c.965-1_976delinsACCGAAAATTTT and c.1964G＞A in one patient,and c.486_491delinsAC and c.2178+1G＞T in another patient.Both parents were carriers of the mutant sites with normal phenotypes.The results of Sanger sequencing were consistent with those of trio-WES.Conclusions:The compound heterozygous pathogenic variations in the SLC12A3 gene may be the genetic cause of these two patients,which expands the spectrum of pathogenic variations of this gene.For those patient suspected as Gitelman syndrome,the genetic testing of the patient and parents should be completed,so as to make a clear diagnosis,provide more comprehensive genetic counseling and more accurate prenatal diagnosis for subsequent pregnancies.关键词
Gitelman综合征/溶质载体家族12,成员3/全外显子组测序/突变/低钾血症Key words
Gitelman syndrome/Solute carrier family 12,member 3/Whole exome sequencing/Mutation/Hypokalemia引用本文复制引用
陈雪,田芯瑗,郑雷,马盼盼,张钏,惠玲,周秉博..二例SLC12A3基因复合杂合变异所致Gitelman综合征的遗传学分析[J].国际生殖健康/计划生育杂志,2025,44(5):366-370,387,6.
