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

Zhonghua Yan Ke Za Zhi. 2022 Mar 11;58(3):213-214. doi: 10.3760/cma.j.cn112142-20210915-00424.
[Article in Chinese]

Abstract
in English, Chinese

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.

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。.

Publication types

  • Case Reports

MeSH terms

  • Child
  • China
  • Fibrosis
  • Humans
  • Kinesins* / genetics
  • Mutation
  • Ophthalmoplegia
  • Pedigree

Substances

  • KIF21A protein, human
  • Kinesins

Supplementary concepts

  • Congenital Fibrosis of the Extraocular Muscles