一个儿童早老症家系临床特征分析和致病基因研究  

Analysis of clinical characteristics and causative genes of Hutchinson-Gilford progeria syndrome in a family

作　　者：覃霞[1] 罗彦彦[1] 袁广之[2] 畅荣妮[3] 赖青鸟[3] 杨益金 华荣[3] 李福记 方玲[3] 吴华裕[1] 马军[1] 胡启平[1] 李晓龙[1] 袁志刚[1] 林有坤[1] 舒伟[1] 

机构地区：[1] 广西医科大学第一附属医院皮肤科,南宁530021 [2] 广西医科大学第一附属医院脊柱外科,南宁530021 [3] 广西医科大学基础医学院细胞生物学与遗传学教研室

出　　处：《中华皮肤科杂志》2015年第3期184-186,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金地区科学基金（81260479）;广西自然科学青年基金（2013GxNSFBA019143）

摘　　要：目的 通过对一个罕见早老症家系的分析,探讨早老症患者的临床病理学特征和遗传学因素.方法 收集1个早老症家系（2代共5名家庭成员,子女3人均为患者）3例患者的基本资料,对其进行临床检查,并对患者手部、肺脏和下颌骨进行影像学分析;同时对3例患者进行染色体核型分析,对该家系进行LMNA基因突变分析.结果 家系中的3例患者半岁左右即可见皮肤硬化症,并表现出生长严重迟缓,极度衰老面容.年长患者影像学检查显示骨质疏松,下颌骨发育不全.染色体核型分析显示,3例患者及其父母核型正常.基因突变分析显示,3例患者均为LMNA基因第9号外显子的纯合突变1579C＞T（R527C）,父母均为LMNAR527C杂合突变.结论 该早老症家系患者符合儿童早老症表型,为LMNA基因R527C纯合突变所致.Objective To assess clinicopathological features of and genetic factors in Hutchinson-Gilford progeria syndrome （HGPS） in a family.Methods General information was collected from 3 patients with HutchinsonGilford progeria syndrome in a family,which included 5 members over 2 generations with all the 3 children affected by HGPS.All the 3 patients underwent clinical investigation,image analysis of hands,lungs and mandibles,as well as karyotype analysis of chromosomes.LMNA gene mutations were analyzed in these family members.Results All the 3 patients developed skin sclerosis with severe growth retardation and appearance of extreme aging at about 6 months of age.Image analysis showed osteoporosis and mandibular hypoplasia in the elder patient.Karyotype analysis showed no abnormality in the patients or their parents.Mutation analysis revealed a homozygous mutation 1579 C 〉 T （R527C） in exon 9 of the LMNA gene in all the patients,but a heterozygous mutation R527C in the LMNA gene in their parents.Conclusions The patients in this family present characteristic manifestations of HGPS,which may be caused by the homozygous LMNA mutation R527C.

关 键 词：早衰 LMNA基因 DNA突变分析 Hutchinson-Gilford综合征 

分 类 号：R725.9[医药卫生—儿科]