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A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin

Vanita, V., Hennies, Hans C., Singh, D., Nürnberg, P., Sperling, K. and Singh, J.R. (2006) A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Molecular Vision, 12:121. pp. 1217-1222. ISSN 1090-0535

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Abstract

Purpose
To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).

Methods
All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.

Results
Direct sequencing of the encoding regions of the candidate genes revealed a heterozygous mutation c.592C→T in exon 2 of the gap junction protein, alpha 8 (GJA8) gene. This mutation was responsible for the familial disorder through the substitution of a highly conserved arginine to tryptophan at codon 198 (p.R198W). This change co-segregated with all affected members of the family, but was not detected either in the non-carrier relatives or in the 100 normal controls.

Conclusions
This report is the first to relate p.R198W mutation in GJA8 with CCMC. The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin [Field not mapped to EPrints] LB - 11 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords: analysis
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Depositing User: Hans Hennies
Date Deposited: 06 Jul 2016 13:07
Last Modified: 29 Jul 2016 16:15
URI: http://eprints.hud.ac.uk/id/eprint/28811

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