[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].

@article{Yan2011MutationAO,
  title={[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].},
  author={You-sheng Yan and Sheng-ju Hao and Gang Wang and Liang Peng and Xiao-ping Hu and Hai-yan Jiao},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2011},
  volume={28 5},
  pages={490-2}
}
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… CONTINUE READING