GLI2基因变异所致Culler-Jones综合征患儿1例的临床及遗传学分析  

Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene

作　　者：范言诗 丁曙霞[1] 吴军华[1] 邱海燕[1] Fan Yanshi;Ding Shucia;Wu Junhua;Qiu Haiyan(Ningbo Women&Children's Hospital,Ningbo,Zhejiang 3315000,China)

机构地区：[1]宁波市妇女儿童医院,宁波315000

出　　处：《中华医学遗传学杂志》2023年第2期217-221,共5页Chinese Journal of Medical Genetics

基　　金：宁波市儿童健康与疾病临床医学研究中心(2019A21002)

摘　　要：目的分析1例生长缓慢、多指畸形患儿的基因变异, 明确其致病原因。方法选取2021年5月因"发现生长速度减慢2年余"至宁波市妇女儿童医院就诊的1例患儿为研究对象。采集患儿及其父母的外周血样, 提取DNA, 对患儿进行全外显子组测序, 用Sanger测序对GLI2基因的候选变异进行家系验证。结果患儿GLI2基因存在c.3670C>T(p.Q1224*)杂合变异, 导致编码蛋白的多肽链合成提前终止, 其父母均未检测到相同的变异。结论患儿被确诊为Culler-Jones综合征。GLI2基因的c.3670C>T(p.Q1224*)杂合变异可能是其遗传学病因。ObjectiveTo explore the genetic basis for a child featuring short stature and postaxial polydactyly.MethodsA case of child who presented at Ningbo Women&Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years"was selected as the subject.Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA.Whole exome sequencing was carried out for the child,and candidate variant was verified by Sanger sequencing of his family members.Results The child was found to harbor a heterozygous c.3670C>T(p.Q1224)variant of the GLI2 gene,which may lead to premature termination of protein translation.The variant was not detected in either parent.Conclusion The child was diagnosed with Culler-Jones syndrome.The c.3670C>T(p.Q1224*)variant of the GLI2 gene probably underlay the disease in this child.

关 键 词：Culler-Jones综合征 GLI2基因 全外显子组测序 

分 类 号：R725.9[医药卫生—儿科]