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Patricia L. Kramer, Dante LaMorticella, Karla Schilling, Andrea M. Billingslea, Richard G. Weleber, Michael Litt; A New Locus for Autosomal Dominant Congenital Cataracts Maps to Chromosome 3. Invest. Ophthalmol. Vis. Sci. 2000;41(1):36-39.
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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.
results. 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
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