ABCC9基因变异所致Cantú综合征1例患儿的临床特征及遗传学分析  

Clinical characteristics and genetic analysis of a child with Cantúsyndrome due to variant of ABCC9 gene

作　　者：肖梦君 王芳洁 李莹莹[2] 姚晓利 侯维纳[2] 何坤 Xiao Mengjun;Wang Fangjie;Li Yingying;Yao Xiaoli;Hou Weina;He Kun(Henan Provincial Neurodevelopment Engineering Research Center for Children,Henan Provincial Key Laboratory of Children′s Genetics and Metabolic Diseases,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou,Henan 450066,China;Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Department of Cardiovascular Medicine,Zhengzhou,Henan 450066,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院,河南省儿童遗传代谢性疾病重点实验室,河南省儿童神经发育工程研究中心,郑州450066 [2]郑州大学附属儿童医院,河南省儿童医院郑州儿童医院心血管内科,郑州450066

出　　处：《中华医学遗传学杂志》2024年第10期1249-1254,共6页Chinese Journal of Medical Genetics

基　　金：河南省科技攻关联合共建项目(2018020644)。

摘　　要：目的探讨1例Cantú综合征(CS)患儿的临床特点及遗传学病因。方法选取2022年2月23日就诊于郑州大学附属儿童医院的1例CS男性患儿作为研究对象,收集患儿的临床资料。对患儿进行全外显子组测序,并针对候选变异进行Sanger家系验证。本研究通过郑州大学附属儿童医院医学伦理委员会的审查(伦理号:2023-K-087)。结果患儿为3岁2月龄男性,生后多毛,全身皮肤毛发重,合并特殊面容。1月前心脏超声心动图提示房间隔缺损。测序结果显示患儿ABCC9基因存在c.2438G>C(p.S813T)新发杂合变异。根据美国医学遗传学与基因组学学会相关指南,c.2438G>C被评级为可能致病性变异(PS2+PM2_Supporting+PP3)。结论ABCC9基因的c.2438G>C(p.S813T)杂合变异可能是该CS患儿的遗传学病因。ObjectiveTo explore the clinical characteristics and pathogenic variant in a child with Cantúsyndrome(CS).MethodsA 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 Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University(Ethics No.2023-K-087).ResultsThe 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).ConclusionThe heterozygous c.2438G>C variant of the ABCC9 gene probably underlay the pathogenesis of CS in this child.

关 键 词：Cantú综合征 ABCC9基因 全外显子组测序 房间隔缺损 儿童 

分 类 号：R725.9[医药卫生—儿科]