Fine mapping of the Schnyder's crystalline corneal dystrophy locus

• Published in: Human genetics Vol. 114; no. 6; pp. 594 - 600
• Main Authors: THEENDAKARA, Veena, TROMP, Gerard, TERVO, Timo M, HENN, Wolfram, DENNIGER, Elke, KRAUSE, Matthias, KOKSAL, Murat, KARGI, Sebnem, UGURBAS, Suat H, LATVALA, Terho, SHEARMAN, Amanda M, WEISS, Jayne S, KUIVANIEMI, Helena, WHITE, Peter S, PANCHAL, Seema, COX, Jennifer, WINTERS, R. Scott, RIEBELING, Petra, TOST, Frank, HOELTZENBEIN, Maria
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-05-2004; Berlin Springer Nature B.V; New York, NY
• Subjects: Biological and medical sciences; Cholesterol; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 1 - genetics; Classical genetics, quantitative genetics, hybrids; Corneal Dystrophies, Hereditary - genetics; Corneal transplantation; Diseases of cornea, anterior segment and sclera; Eye diseases; Eye surgery; Founder Effect; Fundamental and applied biological sciences. Psychology; Genealogy; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Genotype; Haplotypes; Haplotypes - genetics; Hospitals; Human; Humans; Medical colleges; Medical sciences; Medicine; Methods, theories and miscellaneous; Microsatellite Repeats; Ophthalmology; Pedigree; Visual acuity; Turkey; United States > US; Detroit Michigan; Germany; Finland; USA; Sweden; Genetic mapping; Eye disease; Genetics; Keratopathy; Schnyder corneal dystrophy; Locus; Anterior segment disease; Genetic disease
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-004-1110-1

Schnyder's crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp.