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."
To determine the mutation responsible for the congenital fibrosis of the extraocular muscles type I(CFEOM1) in a Chinese family.
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).
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.
This Chinese family with CFEOM1 may be caused by a c.2860C to T mutation in the KIF21A gene.
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
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
- 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
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).
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).
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.
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.
With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characte...
OBJECTIVE: To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease). METHODS: Linkage an...
Aims: Mutations in the PAX6 are the major cause of congenital aniridia. The objective of this study was to analyze genetic mutations in PAX6 in Chinese patients with congenital aniridia. Methods: Tota...
OBJECTIVE: The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment o...
OBJECTIVE: To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family. METHODS: All exons of the ATP2C1 gene were analyzed with polymerase chain...
Primary congenital glaucoma patients and their immediate relatives will undergo complete ophthalmic examination and an interview with a geneticist. A blood sample will be drown from all p...
Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome
The purpose of this study is to identify health management concerns and needs of family members of asymptomatic and symptomatic persons with mutation in the gene for Huntington Disease (HD...
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the develo...
Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked...