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A new locus for autosomal dominant congenital cataracts maps to chromosome 3
P L Kramer1, D LaMorticella, K Schilling
1Department of Neurology, Oregon Health Sciences University, Portland 97201, USA. kramer@ohsu.edu
Purpose:
To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region.
Methods:
A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized. A genome-wide screen was conducted with a set of markers spaced at 10- to 15-cM intervals, and linkage was assessed using standard LOD score analysis.
Result:
Fifteen (15) affected individuals were identified. This form of congenital cataracts maps to a 12-cM region on chromosome 3q21.2-q22.3 between markers D3S3674 and D3S3612, with a maximum multipoint LOD score of 6.94 at D3S1273. The crystallin gene, CRYGS, was excluded as a candidate gene for this locus.
Conclusions:
There are now more than 12 different genetic loci that cause congenital cataracts. The most recent locus to be identified is on chromosome 3q21.2-q22.3, in a family with congenital nuclear and sutural cataracts.