Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.
Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Different loci for hereditary congenital cataracts have been mapped to chromosomes 1, 2, 16, and 17q24. We report linkage of a gene causing a unique form of autosomal dominant zonular cataracts with Y-sutural opacities to chromosome 17q11-12 in a three-generation family exhibiting a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM. This interval is bounded by the markers D17S799 and D17S798, a region that would encompass a number of candidate genes including that coding for beta A3/A1-crystallin.
Padma
T
T
National Eye Institute, Bethesda, MD 20892, USA.
Ayyagari
R
R
Murty
J S
JS
Basti
S
S
Fletcher
T
T
Rao
G N
GN
Kaiser-Kupfer
M
M
Hejtmancik
J F
JF
D000293:Adolescent; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree