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Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. 2011

Li Wang, and Yi Luo, and Wen Wen, and Shenghai Zhang, and Yi Lu
Department of Ophthalmology, Eye and ENT hospital of Fudan University, Shanghai, China.

OBJECTIVE 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 (PCR) and were sequenced performed by bidirectional sequencing. The stability of mutation was predicted with Prediction of Protein Mutant Stability changes (PoPMuSiC). The structure homology modeling of the mutant protein was based on Swiss-Model Serve, and its structure was displayed and compared with human connexin26 using the RasMol software. RESULTS By sequencing the encoding regions of the candidate genes, a missence mutation (c.139G>A) was detected in gap junction protein alpha 8 (GJA8) gene, which resulted in the substitution of highly conserved aspartic acid by asparagine at codon 47 (p.D47N). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. PoPMuSiC analysis showed the change in folding free energy upon mutation (ΔΔG) is 0.31 kcal/mol and the mutation p.D47N is destabilizing. The homology modeling showed that the structure of the mutant protein was different with that of human connexin26. CONCLUSIONS The study identified a missence mutation (c.139G>A) in GJA8 gene associated with autosomal dominant congenital cataract in a Chinese family. It gave further evidence for GJA8 associated with congenital cataract.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297 Male Males
D008958 Models, Molecular Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures. Molecular Models,Model, Molecular,Molecular Model
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002386 Cataract Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005136 Eye Proteins PROTEINS derived from TISSUES of the EYE. Proteins, Eye
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant

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