Alternative titles; symbolsCATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES; CCSSOCATARACT, CENTRAL POUCH-LIKE, WITH SUTURAL OPACITIESCytogenetic location: 15q...
Alternative titles; symbols
Cytogenetic location: 15q21-q22 Genomic coordinates (GRCh38): 15:52,600,000-67,200,000
▼ Clinical Features
Vanita et al. (2001) studied a large 7-generation Indian family in which 74 individuals had an autosomal dominant congenital cataract that the authors called 'central pouch-like cataract with sutural opacities.' This form of cataract was phenotypically distinct from other forms of autosomal dominant cataract whose map locations had been determined. Using microsatellite markers, Vanita et al. (2001) excluded known candidate genes.
Vanita et al. (2001) performed a genomewide search in an Indian family segregating a form of congenital cataracts with sutural opacities, and found linkage to markers on chromosome 15, with a maximum 2-point lod score of 5.98 at theta of 0.0 with marker D15S117. Multipoint and haplotype analyses narrowed the locus to a 10-cM region between markers D15S209 and D15S1036, closely linked to marker D15S117 in the 15q21-q22 region.