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

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.