摘要
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.
出处
《临床皮肤科杂志》
CAS
CSCD
北大核心
2014年第9期518-520,共3页
Journal of Clinical Dermatology
基金
教育部新世纪优秀人才支持计划(NCET-10-0673)资助项目
关键词
早老症
Hutchinson-Gilford progeria syndrome