罕见突变引起的早老症1例及文献回顾

Hutchinson-Gilford progeria syndrome caused by rare mutation:a case report and literature review

报告1例早老症。患儿男,2个月。1个月时开始出现躯干及四肢皮肤硬化、双眼突出、面部皮肤菲薄、头皮静脉显露、哭声尖细、关节僵硬和生长受限,随访过程中出现脱发。基因分析显示核纤层蛋白A基因(LMNA)突变(c.1968+1G>A)。根据临床表现和基因分析结果,诊断为早老症。该位点突变引起的早老症为国内首例报告。

A case of Hutchinson-Gilford progeria syndrome （HGPS） is reported. A 2-month-old boy presented with scleroderma-like skin changes on the trunk and extremities, prominent eyes, loss of subcutaneous fat, prominent scalp veins, high-pitched voice, joint stiffness and growth retardation at 1-month old. Hair loss occurred afterward. Genetic analysis revealed an unusual mutation （c.1968＋1G〉A） of the human nuclear lamin A gene （LMNA）. Based on clinical manifestations and genetic analysis, he was diagnosed as HGPS. This was the first HGPS patient with c.1968＋1G〉A mutation in China.