title: [Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
abstract: OBJECTIVE
  To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I(CFEOM1) in a Chinese family.
  
  
  METHODS
  Direct sequencing of exons 20 and 21 in the KIF21A gene was performed for the proband. The mutation c.2860C to T in exon 21 was examined by allele specific-PCR (AS-PCR) analysis in other family members. Haplotype analysis was performed using four STR markers (D12S1668, D12S2194, D12S331 and D12S1048).
  
  
  RESULTS
  A heterozygous mutation c.2860C to T in the KIF21A gene was identified in all three affected members with CFEOM1. Haplotype analysis suggested that the mutation might derive from maternal germline mosaicism.
  
  
  CONCLUSIONS
  This Chinese family with CFEOM1 may be caused by a c.2860C to T mutation in the KIF21A gene.
authors: Department of Medical Genetics and Cell Biology, Ningxia Medical University, People's Republic of China.
authors: You-sheng
authors: YS
authors: Yan
authors: Sheng-ju
authors: SJ
authors: Hao
authors: Gang
authors: G
authors: Wang
authors: Liang
authors: L
authors: Peng
authors: Xiao-ping
authors: XP
authors: Hu
authors: Hai-yan
authors: HY
authors: Jiao
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D005091:Exons; D005260:Female; D005355:Fibrosis; D006239:Haplotypes; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009801:Oculomotor Muscles / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: C119023:KIF21A protein, human; D016547:Kinesins