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

05:05 EDT 25th July 2014 | BioPortfolio

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


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.
CONCLUSION:
This Chinese family with CFEOM1 may be caused by a c.2860C to T mutation in the KIF21A gene.

Affiliation

Department of Medical Genetics and Cell Biology, Ningxia Medical University; Key Laboratory of Heredity and Reproduction of Ningxia Hui Autonomous Region; Key Laboratory of Fertility Preservation and Maintenance, Ningxia Medical University, Ministry of Ed

Journal Details

This article was published in the following journal.

Name: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
ISSN: 1003-9406
Pages: 490-492

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