单等位SLC12A3基因突变致Gitelman综合征1例的遗传学分析  

Genetic analysis of Gitelman syndrome caused by monoallelic SLC12A3 gene mutation

作　　者：林彦琳 毕丽妨 王珏 Lin Yanlin;Bi Lifang;Wang Jue(Endocrinology Departement of Weihai Central Hospital,Weihai 264400,China;Hubei Enshi College,Enshi 445000,China)

机构地区：[1]威海市中心医院内分泌代谢病科,威海264400 [2]湖北恩施学院,恩施445000

出　　处：《国际遗传学杂志》2024年第5期361-365,共5页International Journal of Genetics

摘　　要：目的探寻1例临床病征疑似Gitelman综合征(Gitelman syndrome,GS)患者基因突变位点,同时行遗传学分析。方法抽取临床病征疑似GS患者及其父母外周血,直接对SLC12A3等基因的外显子区(编码区)序列测序,寻找潜在的致病基因。结果患者的SLC12A3基因存在杂合错义突变c.1456 G>A(p.Asp486Asn);父亲表型正常,携带c.1456 G>A杂合突变;母亲未发现该位点基因突变。结论本例患者的致病基因可能为SLC12A3基因,突变位点为c.1456 G>A杂合突变。GS临床较罕见、表型异质性大,漏诊率高,对疑似GS患者及早进行基因检测明确诊断、及早干预治疗,同时需对GS患者长期随访,以预防并发症及药物副作用的发生。Objective To identify gene mutation site of a patient with clinical symptoms suspected of Gitelman syndrome(GS),and perform genetic analysis.Methods One patient with suspected clinical symptoms of GS and his parents’peripheral blood were selected,and the exon(coding region)sequences of genes such as SLC12A3 were directly sequenced to identify potential pathogenic genes.Results The patient has a heterozygous missense mutation in the SLC12A3 gene:c.1456 G>A(p.Asp486Asn);The father has a normal phenotype and carries a c.1456 G>A heterozygous mutation;The mother did not detect any genetic mutations at this locus.Conclusion The pathogenic gene of this patient is the SLC12A3 gene,with a mutation site of c.1456 G>A heterozygous missense mutation.GS is rare in clinical practice and has high phenotypic heterogeneity,with a high misdiagnosis rate.It is necessary to conduct genetic testing early to make a clear diagnosis and intervene in treatment for suspected GS patients.At the same time,long-term follow-up is required to prevent complications and drug side effects in GS patients.

关 键 词：低钾血症 SLC12A3基因 单杂合突变 吉尔曼综合征 

分 类 号：R596[医药卫生—内科学]