先天性眼外肌纤维化KIF21A基因新发现突变位点1家系  

Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles

作　　者：夏翠然 时瑞兰 南良焕 郝静 贾亚丁 Xia Cuiran;Shi Ruilan;Nan Lianghuan;Hao Jing;Jia Yading(Jinzhong Aier Eye Hospital,Jinzhong 030600,China;Taiyuan Aier Eye Hospital,Taiyuan 030000,China)

机构地区：[1]晋中爱尔眼科医院,晋中030600 [2]太原爱尔眼科医院,太原030000

出　　处：《中华眼科杂志》2022年第3期213-214,共2页Chinese Journal of Ophthalmology

摘　　要：1例因自幼双眼上睑抬起困难伴眼球运动受限患者就诊。检查发现双眼上睑下垂,眼球向各个方向转动受限。诊断为双眼先天性眼外肌纤维化。基因检测出1个致病基因突变位点KIF21A-ex20 c.2821C>T(p.Arg941Trp),为杂合错义突变。The proband presented with bilateral congenital non-progressive ptosis and limitation of eye rotation since childhood.The diagnosis was congenital fibrosis of the extraocular muscles.A new KIF21 pathogenic mutation locus was found.It was a KIF21A-ex20 c.2821C>T(p.Arg941Trp)heterozygous missense mutation,which caused the disease in this family.

关 键 词：眼肌麻痹 纤维化 驱动蛋白 突变 系谱 

分 类 号：R777.4[医药卫生—眼科]