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- Title
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
- Authors
Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S
- Abstract
Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.
- Subjects
CATARACT; LINKAGE (Genetics); GENES; HETEROGENEITY; WOLFRAM syndrome
- Publication
European Journal of Human Genetics, 2013, Vol 21, Issue 12, p1356
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2013.52