D. Mackay et al., A NEW LOCUS FOR DOMINANT ZONULAR PULVERULENT CATARACT, ON CHROMOSOME-13, American journal of human genetics, 60(6), 1997, pp. 1474-1478
Inherited cataract is a clinically and genetically heterogeneous disea
se that most often presents as a congenital autosomal dominant trait.
Here we report the linkage of a new locus for dominant ''zonular pulve
rulent'' cataract (CZP) to chromosome 13. To map the CZP locus we perf
ormed molecular-genetic linkage analysis using microsatellite markers
in a five-generation English pedigree. After exclusion of eight known
loci and several candidate genes for autosomal dominant cataract, we o
btained significantly positive LOD scores (Z) for markers D13S175 (max
imum Z [Z(max)] = 4.06; maximum recombination frequency [theta(max)] =
0) and D13S1236 (Z(max) = 5.75, theta(max) = 0). Multipoint analysis
gave Z(max) = 6.62 (theta(max) = 0) at marker D13S175. Haplotype data
indicated that CZP probably lies in the centromeric region of chromoso
me 13, provocatively close to the gene for lens connexin4G.