SRD5A2基因新型复合杂合突变致类固醇5-α还原酶2型缺乏症的遗传变异分析  

Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation

作　　者：初国铭[1] 李萍萍[2] 常文婧 何蓉[1] 赵彦艳[1] CHU Guo-Ming;LI Ping-Ping;CHANG Wen-Jing;HE Rong;ZHAO Yan-Yan(Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院临床遗传科,辽宁沈阳110004 [2]中国医科大学附属盛京医院生殖医学中心,辽宁沈阳110004

出　　处：《中国当代儿科杂志》2020年第7期790-795,共6页Chinese Journal of Contemporary Pediatrics

基　　金：国家重点研发计划(2016YFC1000702)。

摘　　要：该文报道1例类固醇5-α还原酶2型缺乏症患儿的临床特征及SRD5A2基因突变特点。患儿男性,2月龄,生后即出现尿道下裂及阴茎短小。提取患儿及父母外周血DNA,通过高通量测序技术对患儿DNA样本进行内分泌疾病相关基因的捕获测序,并对家系DNA样本进行Sanger测序验证。结果显示患儿SRD5A2基因存在c.680G>A(p.R227Q)和c.608G>A(p.G203D)复合杂合突变,其中c.680G>A来源于其父亲,为已知致病性突变,c.608G>A来源于其母亲,为新发现的突变。该研究为患儿病因诊断及该家系的遗传咨询提供了分子依据,并扩展了SRD5A2基因突变谱。This article reported the clinical characteristics and SRD5A2 gene mutation pattern of a child with steroid 5-αreductase type 2 deficiency.The 2-month-old boy showed hypospadias and short penis shortly after birth.DNA was extracted from the peripheral blood of the child and his parents.The endocrine disease-related genes were captured and sequenced by high-throughput sequencing technology,and the family DNA samples were verified by Sanger sequencing.The results showed that c.680G>A(p.R227Q)and c.608G>A(p.G203D)compound heterozygous mutations existed in the SRD5A2 gene of the child.The c.680G>A mutation inherited from his father,which was a known pathogenic mutation.The c.608G>A mutation originated from his mother,which was a novel mutation discovered in this study.These results provide molecular evidence for the etiological diagnosis of the child and genetic counseling for the family,as well as extend the mutation spectrum of SRD5A2 gene.

关 键 词：类固醇5-α还原酶2型缺乏症 尿道下裂 SRD5A2基因 二代测序 儿童 

分 类 号：R725.9[医药卫生—儿科]