Williams-Beuren综合征患儿2例的临床特征及遗传学分析  

Clinical features and genetic analysis of two children with Williams-Beuren syndrome

作　　者：黄明珠 徐玲玲[1] 陈晓媛[1] 董玲花 马立燕[1] 马金海[1] Huang Mingzhu;Xu Lingling;Chen Xiaoyuan;Dong Linghua;Ma Liyan;Ma Jinhai(Department of Pediatrics,General Hospital of Ningxia Medical University,Yinchuan,Ningxia 750000,China)

机构地区：[1]宁夏医科大学总医院儿科,银川750000

出　　处：《中华医学遗传学杂志》2023年第7期828-832,共5页Chinese Journal of Medical Genetics

基　　金：宁夏回族自治区科技攻关计划(2021BEG03035)。

摘　　要：目的探讨2例Williams-Beuren综合征(WBS)患儿的临床及遗传学特征。方法将2例分别于2021年1月26日与2021年3月18日就诊于宁夏医科大学总医院儿科的患儿作为研究对象。分析患儿的临床资料,并对其进行基因检测。结果2例患儿均表现为生长发育迟缓、特殊面容及心血管异常。患儿1合并有亚临床甲减,患儿2合并有癫痫发作。基因检测发现患儿1染色体7q11.23区存在1.54 Mb缺失,患儿2染色体7q11.23区存在1.53 Mb缺失,同时存在ATP1A1基因的c.158G>A变异和KMT2C基因的c.12181A>G变异。根据美国医学遗传学与基因组学学会相关指南,c.158G>A与c.12181A>G变异评级为意义未明变异(PM1+PM2_Supporting+PP2+PP3;PM2_Supporting)。结论2例患儿具有WBS综合征的典型表现,染色体7q11.23区微缺失是其主要的病因。对存在生长发育迟滞、特殊面容以及心血管畸形的患儿,需考虑WBS,并通过基因检测明确诊断。Objective To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome(WBS).Methods Two children who had presented at the Department of Pediatrics,General Hospital of Ningxia Medical University respectively on January 26 and March 18,2021 were selected as the study subjects.Clinical data and results of genetic testing of the two patients were analyzed.Results Both children had featured developmental delay,characteristic facies and cardiovascular malformation.Child 1 also had subclinical hypothyroidism,whilst child 2 had occurrence of epilepsy.Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region,whilst child 2 has a 1.53 Mb deletion in the same region,in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene.Based on the guidelines from the American College of Medical Genetics and Genomics,the c.158G>A and c.12181A>G variants were rated as unknown significance variants(PM1+PM2_Supporting+PP2+PP3;PM2_Supporting).Conclusion Both children had characteristic features of WBS,for which deletions of the 7q11.23 region may be accountable.For children manifesting developmental delay,facial dysmorphism and cardiovascular malformations,the diagnosis of WBS should be suspected,and genetic testing should be recommended to confirm the diagnosis.

关 键 词：Williams-Beuren综合征 染色体微缺失 临床表型 癫痫 基因 

分 类 号：R725.9[医药卫生—儿科]