A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract
نویسندگان
چکیده
منابع مشابه
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract
PURPOSE To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract. METHODS After obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese family with five affected. All exons of candidate genes were amplified by polymerase chain reaction...
متن کاملA novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.
PURPOSE To identify the mutation and the underlying mechanism of cataractogenesis in a five-generation autosomal dominant congenital lamellar cataract family. METHODS Nineteen mutation hot spots associated with autosomal dominant congenital cataract have been screened by PCR-based DNA sequencing. Recombinant wild-type and mutant human alphaB-crystallin were expressed in Escherichia coli and p...
متن کاملA novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
C ataract results from a loss in transparency of the crystalline lens. Worldwide, there are an estimated 20 million people blind (Snellen visual acuity of 3/60 or less) as a result of cataract. Despite effective surgical treatment, demand outstrips supply in both Western and developing countries, for many reasons, 3 and other disease modifying strategies must be considered. A strong genetic pre...
متن کاملA novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
PURPOSE Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here, we described a six-generation Chinese family presenting with morphologically homogeneous "nuclear pulverulent" cataracts. METHODS A whole genome scan was performed with polymorphic microsatellites in the Human ...
متن کاملFurther evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract
CONTEXT Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. AIMS To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited pulverulent cataract. SUBJECTS AND METHODS After obtained informed consent, detailed ophtha...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2005
ISSN: 1468-6244
DOI: 10.1136/jmg.2005.034108