A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family
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چکیده
منابع مشابه
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملA novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
PURPOSE To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS Family history and clinical data were recorded. The genomic DNA was extracted from peripheral blood leukocytes. All the members were genotyped with microsatellite markers at loci considered to be associated with cataracts. Two-point logarithm of odds (LOD) scores ...
متن کاملA missense mutation in LIM2 causes autosomal recessive congenital cataract
PURPOSE To identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract. METHODS Forty families (total of 100 affected and 84 unaffected individuals) were recruited for the study. Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane protein-2 (LIM2) gene. Exons and flanking regions were...
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 missense mutation in clcn1 gene in a family with autosomal recessive congenital myotonia
congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: European Journal of Ophthalmology
سال: 2018
ISSN: 1120-6721,1724-6016
DOI: 10.1177/1120672118804757