摘要报告1例Hutchinson-Gilford早老综合征(HGPS).对1例患儿及其父母外周血LMNA基因11号外显子和侧翼序列进行测序.患者男,5岁,全身皮肤呈硬皮病样改变,生长迟滞,特殊面容,毛发稀少.髋、膝关节均不能完全伸直,呈“骑马样站姿”.患儿LMNA基因11号外显子c.1824C＞T杂合点突变,父母均未检测到该位点突变.文中还通过回顾性分析,探讨中国人群中通过基因学诊断的18例病例的疾病特点.我国基因学诊断的18例HGPS中,9例经典型HGPS均为散发病例,基因表型均上出现c.1824C＞T杂合突变.患儿均在1岁以内发病,出生时基本未表现出“异常”.患儿男女性别比例为2∶1,以男孩受累明显;非经典型患儿基本在家族内发病,男女受累情况类似,3个家庭中均发现c.1579C＞T纯合突变.

abstractsTo report a case of Hutchinson-Gilford progeria syndrome (HGPS).Peripheral blood samples were collected from a 5-year-old boy with HGPS and his parents.DNA was extracted from these samples,and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequences followed by DNA sequencing.The patient presented with scleroderma-like skin changes all over the body,growth retardation,distinctive facial features and hypotrichosis.His hip and knee joints could not be straightened completely,giving a horse-riding stance.A heterozygous mutation C.1824C ＞ T was identified in exon 11 of the LMNA gene in the patient but not in either of his parents.A retrospective analysis was carried out on 18 Chinese patients with genetically diagnosed HPGS.Of them,9 classical cases were all sporadic with a heterozygous mutation of C.1824C＞T.None of the patients with classical HPGS showed abnormality at birth,but all of them developed symptoms within 1 year after birth.Boys were more frequent to be affected by classical HPGS than girls,with the male/female ratio being 2:1.There was a familial tendency for the occurrence of atypical HPGS,and boys and girls appeared to be affected by HPGS at a similar probability.Three families with atypical HPGS all showed a homozygous LMNA mutation c.1579C＞T.