BCL11A基因变异所致Dias-Logan综合征1例患儿的遗传学分析  

Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene

作　　者：李林飞 罗淑颖 张耀东 尚清[1] 张万存 刘磊[1] 张小慢 梅世月 Li Linfei;Luo Shuying;Zhang Yaodong;Shang Qing;Zhang Wancun;Liu Lei;Zhang Xiaoman;Mei Shiyue(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 450018,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,郑州450018

出　　处：《中华医学遗传学杂志》2024年第9期1096-1099,共4页Chinese Journal of Medical Genetics

基　　金：国家人口与健康科学数据共享平台研究项目(SJPT-03-01);河南省医学科技攻关计划联合共建项目(LHGJ20200644)。

摘　　要：目的对1例Dias-Logan综合征患儿的临床特征及基因变异特点进行分析。方法选取2022年7月于郑州大学附属儿童医院康复医学科门诊就诊的1例言语障碍、自幼精神运动发育迟缓的患儿为研究对象。收集患儿的临床资料,采集患儿及其父母的外周静脉血样并提取基因组DNA。通过全外显子组测序确定可疑致病变异后,应用Sanger测序在该家系中进行验证。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-011)。结果患儿的主要临床表现为全面发育迟缓、小头畸形、特殊面容及行为异常,基因检测结果提示患儿BCL11A基因存在c.561_567delACACGCA(p.Q187fs*7)杂合移码变异,父母未携带该变异。根据美国医学遗传学与基因组学学会(ACMG)相关遗传变异分类标准与指南,该变异被判定为致病性(PVS1+PS2+PM2_Supporting)。结论BCL11A基因杂合变异可能是导致该患儿Dias-Logan综合征的遗传学病因,为临床决策和遗传咨询提供了依据。ObjectiveTo analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.MethodsA child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject.Clinical data of the child was collected.Genomic DNA was extracted from peripheral blood samples of the child and his parents.Potential variant was screened by whole exome sequencing,and candidate variant was verified by Sanger sequencing.This study was approved by the Children′s Hospital Affiliated to Zhengzhou University(Ethics No.2023-K-011).ResultsThe child has presented with global developmental delay,microcephaly,special facial features and behavioral problems.Genetic testing revealed a de novo variant of the BCL11A gene,namely c.561_567delACACGCA(p.Q187fs*7),which was classified as pathogenic(PVS1+PS2+PM2_Supporting).ConclusionThe heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child.Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.

关 键 词：Dias-Logan综合征 BCL11A基因 新发变异 

分 类 号：R725.9[医药卫生—儿科]