全外显子组测序诊断 2 例 Gitelman 综合征。
Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
机构信息
Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
出版信息
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Mar 28;47(3):401-406. doi: 10.11817/j.issn.1672-7347.2022.190698.
Two patients with Gitelman syndrome were admitted to the Department of Endocrinology, Third Xiangya Hospital of Central South University. The genomic DNA from the patients' peripheral blood was extracted and the whole-exome sequencing was performed to detect the possible mutations. The function of the mutation sites was analyzed by bioinformatics software. Through whole-exome sequencing and Sanger sequencing, we have found that 2 patients with Gitelman syndrome carried compound heterozygous mutations of gene, which were c.486_490delTACGGinsA, p.R943W, p.D486N, and p.R928C. Among them, c.486_490delTACGGinsA insertion deletion mutation causes frame shift and protein truncation. The p.R943W, p.D486N, and p.R928C of gene were predicted to be pathogenic mutations by SIFT, PolyPhen2, and Mutation Taster. These 4 mutations were all reported, but p.R943W was first reported in Chinese population. Gitelman syndrome is rare in clinic and the rate of missed diagnosis is high. Early genetic analysis in patients with Gitelman syndrome is helpful to determine the etiology and guide the treatment.
两名 Gitelman 综合征患者被收入中南大学湘雅三医院内分泌科。提取患者外周血基因组 DNA，进行全外显子测序，以检测可能的突变。通过生物信息学软件分析突变位点的功能。通过全外显子测序和 Sanger 测序，我们发现 2 名 Gitelman 综合征患者携带基因的复合杂合突变，分别为 c.486_490delTACGGinsA、p.R943W、p.D486N 和 p.R928C。其中，c.486_490delTACGGinsA 插入缺失突变导致移码和蛋白截断。基因的 p.R943W、p.D486N 和 p.R928C 通过 SIFT、PolyPhen2 和 Mutation Taster 预测为致病性突变。这 4 个突变均有报道，但 p.R943W 是首次在中国人中报道。Gitelman 综合征在临床上较为罕见，漏诊率较高。对 Gitelman 综合征患者进行早期基因分析有助于确定病因并指导治疗。
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