Costello综合征合并皮肤松弛症一例基因突变检测  

Mutation detection in a case of Costello syndrome complicated by cutis laxa

作　　者：阳芳[1] 胡锦涛 郑利雄[1] 姚勇丰[1] 宋彪[1] 孙兆军[1] 石翠萍 房思宁[1] 

机构地区：[1]暨南大学第二临床医学院深圳市人民医院皮肤病与性病科,深圳518020 [2]暨南大学第二临床医学院深圳市人民医院病理科,深圳518020

出　　处：《中华皮肤科杂志》2017年第11期841-843,共3页Chinese Journal of Dermatology

摘　　要：目的 报告1例并发皮肤松弛症的Costello综合征患者，并进行分子遗传学诊断。方法 收集1例合并有皮肤松弛症的Costello综合征患者临床资料，提取该患者皮肤组织和其父母及150例无关健康对照的外周血基因组DNA，对HRAS基因所有外显子和侧翼序列测序。结果 患儿女，13月龄，生长发育迟缓，重度营养不良，面容粗糙，四肢皮肤严重松弛，皮下脂肪减少甚至消失。患儿HRAS基因第2外显子出现突变c.34G 〉 T（p.Gly12Cys），但其父母及健康对照均未检测到该位点突变。结论 HRAS基因第2外显子c. 34G 〉 T（p.Gly12Cys）突变可能为该例Costello综合征的致病原因。Objective To report a case of Costello syndrome complicated by cutis laxa, and to make a molecular genetic diagnosis. Methods Clinical data were collected from a case of Costello syndrome complicated by cutis laxa. Skin tissues were resected from the patient, and peripheral blood samples were obtained from the patient′s parents and 150 unrelated healthy controls. Genomic DNA was extracted from these samples, and all the exons and their flanking sequences of the HRAS gene were analyzed by DNA sequencing. Results The 13-month-old female patient presented with growth retardation, severe malnutrition, coarse facial appearance, severely loose skin over the limbs, and decrease or disappearance of subcutaneous fat. A heterozygous mutation c.34G 〉 T （p.Gly12Cys） was detected in exon 2 of the HRAS gene in the patient, but not in her parents or 150 unrelated healthy controls. Conclusion The c. 34G 〉 T （p.Gly12Cys） mutation in exon 2 of the HRAS gene may be responsible for Costello syndrome in the patient.

关 键 词：染色体障碍 皮肤松弛症 皮肤表现 DNA突变分析 Costello 综合征 基因 HRAS 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]