A new locus for autosomal dominant congenital cataracts maps to chromosome 3.
OBJECTIVE
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 cataracts.
Kramer
P L
PL
Department of Neurology, Oregon Health Sciences University, Portland 97201, USA. kramer@ohsu.edu
LaMorticella
D
D
Schilling
K
K
Billingslea
A M
AM
Weleber
R G
RG
Litt
M
M
D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003459:Crystallins / Q000235:genetics; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree
D003459:Crystallins; D017931:DNA Primers; D004247:DNA