The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36

Schnyder's crystalline corneal dystrophy (SCCD) is an autosomal dominanteye disease characterized by a bilateral clouding of the central cornea,arcus lipoides and/or visible crystalline deposits of cholesterol in thestroma. There is accumulation of phospholipid, unesterified cholesterol andcholesterol ester in the corneal stroma; this is believed to be due to animbalance in the local factors affecting lipid/cholesterol transport ormetabolism. The cellular mechanism of abnormal lipid transport andmetabolism in SCCD is of interest due to its potential involvement inatherosclerosis, and its implications for the pathogenesis ofcerebrovascular, coronary and peripheral vascular disease as well ascorneal opacification. To determine the chromosomal location of the SCCDlocus, genome-wide linkage analysis has been performed in two largeSwede-Finn kindreds recently identified in central Massachusetts. Afteranalysing 300 microsatellite markers > 90% of the genome was excludedfrom linkage to the SCCD locus. We now report the chromosomal assignment ofthe gene for SCCD in both families to be 1p34.1-p36; the maximum multipointlod- score was 8.48 in the interval between D1S214 and D1S503. Fromhaplotype analysis, the SCCD locus lies in the 16 cM interval betweenmarkers D1S2663 and D1S228. Several candidate genes for SCCD have beenlocalized to the 1p34.1-p36 interval.