Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 21, Issue 12, Pages 1356-1360Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2013.52
Keywords
nuclear cataract; linkage; WFS1 gene; heterogeneity
Funding
- Wellcome Trust [063969/Z/01]
- EU project 'PYTHIA' [FP7-ICT2-224030]
- National Institute for Health Research (NIHR) Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- National Institute for Health Research [NF-SI-0507-10204] Funding Source: researchfish
Ask authors/readers for more resources
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 theta=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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available