Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract
نویسندگان
چکیده
منابع مشابه
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
PURPOSE To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain...
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PURPOSE To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, peripheral blood samples of all the participants were obtained, and genomic ...
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C ongenital or paediatric cataract is a phenotypically and genetically heterogeneous disorder consisting of lens opacities in early life. Thirteen genes have been described for autosomal dominant congenital cataract (ADCC). These include genes for seven members of the crystallin family, 2 which are responsible for the refractive index and transparency of the lens, two connexin genes 4 and major...
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Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina microarray. Homozygosity mapping identified a homozygous region of 4.4 Mb encompassing the gene G...
متن کاملMutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts
Objective(s): Childhood cataract is a genetically heterogeneous eye disorder that results in visual impairment. The aim of this study was to identify the genetic mutations of connexin 50 gene among Iranian families suffered from autosomal dominant congenital cataracts (ADCC). Materials and Methods: Families, having at least two members with bilateral familial congenital cataract, were selected ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2005
ISSN: 0007-1161
DOI: 10.1136/bjo.2005.075184