Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract
نویسندگان
چکیده
منابع مشابه
A 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...
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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...
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PURPOSE To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Candidate genes were amplified using PCR and screened for mutations using bidirectional sequencing. ...
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Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.06.2009.1995