LMNA基因917位点突变致早老症报道一例  

A case report of Hutchinson-Gilford progeria syndrome caused by mutation(c.917T>G) of LMNA gene

作　　者：娄美娜 张英谦[2] LOU Meina;ZHANG Yingqian(Graduate School of Hebei Medical University,Shijiazhuang,Hebei 050011,China;Department of Cardiology,Children’s Hospital of Hebei Province,Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease,Shijiazhuang,Hebei 050000,China)

机构地区：[1]河北医科大学研究生学院,河北石家庄050000 [2]河北省儿童医院心内科/河北省小儿心血管重点实验室,河北石家庄050000

出　　处：《中国优生与遗传杂志》2022年第6期1003-1005,共3页Chinese Journal of Birth Health & Heredity

摘　　要：早老症是一种由于基因突变导致患儿衰老表现的遗传性疾病。本例患儿具有下颌小、眼球突出、皮肤粗糙、生长发育缓慢、心血管系统受累等特殊临床表现。经过一代基因测序检测显示,患儿为LMNA基因c.917T>G杂合变异导致的早老症。由于本病在临床中极为少见,现对河北省儿童医院诊治的一例儿童早老症患儿的临床资料进行整理与分析报道,以提高临床医生对本病的认识。Hutchinson-Gilford progeria syndrome is a hereditary disease that can cause the aging performance of children due to gene mutation. This child has special clinical manifestations such as small jaw, exophthalmos, rough skin, slow growth and cardiovascular system involvement. After the first generation of gene sequencing, it was found that the children were caused by the heterozygous variation of LMNA gene C.917T>G. Because this disease is extremely rare in clinic, the clinical data of a child with premature senility diagnosed and treated in Hebei Children’s Hospital are sorted out and reported,so as to improve clinicians’ awareness of this disease.

关 键 词：早老症 LMNA基因 基因突变 

分 类 号：R725.9[医药卫生—儿科]