Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I.
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
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21983718
- DOI: http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2011.05.003
Medical and Biotech [MESH] Definitions
Suppression, Genetic
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
Endocardial Fibroelastosis
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
Jervell-lange Nielsen Syndrome
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
Romano-ward Syndrome
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Evodia
A plant genus of the family RUTACEAE which is used in Chinese medicine (DRUGS, CHINESE HERBAL). Evodiamine and other quinazoline alkaloids (QUINAZOLINES) are obtained from the fruit of E. ruticarpa.
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