[Clinical and genetic analysis of a patient with Dent disease due to hemizygous variant of the CLCN5 gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-04-10 DOI:10.3760/cma.j.cn511374-20241231-00696

Fengxun Liu, Cien Wei, Dongwei Liu

{"title":"[Clinical and genetic analysis of a patient with Dent disease due to hemizygous variant of the CLCN5 gene].","authors":"Fengxun Liu, Cien Wei, Dongwei Liu","doi":"10.3760/cma.j.cn511374-20241231-00696","DOIUrl":null,"url":null,"abstract":"Objective: To explore the clinical features and molecular etiology of a patient with Dent disease due to variant of CLCN5 gene.Methods: A male patient with Dent disease diagnosed at the First Affiliated Hospital of Zhengzhou University in September 2023 was selected as the study subject. Clinical data of the patient were collected. Whole exome sequencing (WES) was carried out for the patient and his family members. Pathogenicity of candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. KS-2018-KY-36).Results: The patient, a 15-year-old male, was admitted due to proteinuria and hematuria. Ultrasonography showed diffuse echogenic changes in both kidneys. Renal biopsy revealed structural dysfunction of renal tubules. Electron microscopy revealed minor tubular and glomerular lesions. The patient was found to harbor a hemizygous c.701dupA (p.Y234Ter) variant of the CLCN5 gene, which was derived from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PM2). Bioinformatic analysis using multiple software predicted the deleterious effect of the variant.Conclusion: The hemizygous c.701dupA (p.Y234Ter) variant of the CLCN5 gene probably underlay the pathogenesis of Dent disease in this patient. Above finding has enriched the mutational spectrum of the CLCN5 gene.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 4","pages":"469-473"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华医学遗传学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn511374-20241231-00696","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: To explore the clinical features and molecular etiology of a patient with Dent disease due to variant of CLCN5 gene.

Methods: A male patient with Dent disease diagnosed at the First Affiliated Hospital of Zhengzhou University in September 2023 was selected as the study subject. Clinical data of the patient were collected. Whole exome sequencing (WES) was carried out for the patient and his family members. Pathogenicity of candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. KS-2018-KY-36).

Results: The patient, a 15-year-old male, was admitted due to proteinuria and hematuria. Ultrasonography showed diffuse echogenic changes in both kidneys. Renal biopsy revealed structural dysfunction of renal tubules. Electron microscopy revealed minor tubular and glomerular lesions. The patient was found to harbor a hemizygous c.701dupA (p.Y234Ter) variant of the CLCN5 gene, which was derived from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+PM2). Bioinformatic analysis using multiple software predicted the deleterious effect of the variant.

Conclusion: The hemizygous c.701dupA (p.Y234Ter) variant of the CLCN5 gene probably underlay the pathogenesis of Dent disease in this patient. Above finding has enriched the mutational spectrum of the CLCN5 gene.

查看原文本刊更多论文

【一例因CLCN5基因半合子变异而致登特病的临床和遗传学分析】。

目的：探讨1例由CLCN5基因变异引起的凹痕病的临床特点及分子病因。方法：选取2023年9月在郑州大学第一附属医院确诊的1例男性登特病患者作为研究对象。收集患者的临床资料。对患者及其家属进行全外显子组测序（WES）。候选变异的致病性经Sanger测序和生物信息学分析证实。本研究已获本院医学伦理委员会批准(伦理号：ks - 2018 - ky - 36)。结果：患者男，15岁，因蛋白尿和血尿入院。超声检查显示双肾弥漫性回声改变。肾活检显示肾小管结构功能障碍。电镜显示小管和肾小球病变。该患者被发现携带CLCN5基因的c.701dupA （p.Y234Ter）半合子变体，该变体来自其母亲。根据美国医学遗传学和基因组学学院（ACMG）的指南，该变异被评为致病性（PVS1+PM2）。使用多种软件的生物信息学分析预测了变异的有害影响。结论：CLCN5基因的半合子c.701dupA （p.Y234Ter）变异可能是该患者凹痕病发病的基础。以上发现丰富了CLCN5基因的突变谱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.