[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-10-10 DOI:10.3760/cma.j.cn511374-20230616-00366

Mengjun Xiao, Fangjie Wang, Yingying Li, Xiaoli Yao, Weina Hou, Kun He

{"title":"[Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].","authors":"Mengjun Xiao, Fangjie Wang, Yingying Li, Xiaoli Yao, Weina Hou, Kun He","doi":"10.3760/cma.j.cn511374-20230616-00366","DOIUrl":null,"url":null,"abstract":"Objective: To explore the clinical characteristics and pathogenic variant in a child with Cantú syndrome (CS).Methods: A male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).Results: The child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c.2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2438G>C variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).Conclusion: The heterozygous c.2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 10","pages":"1249-1254"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-10","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.cn511374-20230616-00366","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 characteristics and pathogenic variant in a child with Cantú syndrome (CS).

Methods: A male who was admitted to the Children's Hospital Affiliated to Zhengzhou University on February 23, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole-exome sequencing (WES). Candidate variant was verified by Sanger sequencing. This study was approved by the Children's Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-087).

Results: The child, a 3-year-and-2-month-old male, was born with hirsutism, with heavy hair all over the body and peculiar facial features. Routine echocardiography 1 month before had discovered atrial septal defect. Sequencing revealed that the child has harbored a heterozygous c.2438G>C (p.S813T) variant of the ABCC9 gene, which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.2438G>C variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).

Conclusion: The heterozygous c.2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

[一名因 ABCC9 基因变异而患有坎图综合征的儿童的临床特征和基因分析]。

目的：探讨坎图综合征（CS）患儿的临床特征和致病变异：探讨坎图综合征（CS）患儿的临床特征和致病变异：选取 2022 年 2 月 23 日在郑州大学附属儿童医院住院的一名男性作为研究对象。收集患儿的临床资料。采集患儿及其父母的外周血样本并进行全外显子组测序（WES）。候选变异通过桑格测序验证。本研究获得了郑州大学附属儿童医院的批准（伦理编号：2023-K-087）：患儿是一名3岁2个月大的男性，出生时患有多毛症，全身毛发浓密，面部特征奇特。一个月前的常规超声心动图检查发现了房间隔缺损。测序结果显示，该患儿的ABCC9基因存在c.2438G>C (p.S813T) 杂合子变异，属于新发变异。根据美国医学遗传学和基因组学学院（ACMG）的指南，c.2438G>C 变异被归类为可能致病（PS2+PM2_支持+PP3）：结论：ABCC9 基因的 c.2438G>C 杂合子变异可能是该患儿 CS 发病机制的基础。

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分钟内获得全文去求助

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.