Fine mapping of the Schnyder's crystalline corneal dystrophy locus

Hum Genet (2004) 114 : 594600DOI 10.1007/s00439-004-1110-1

Received: 23 December 2003 / Accepted: 20 February 2004 / Published online: 19 March 2004ORIGINAL INVESTIGATIONVeena Theendakara Gerard Tromp Helena Kuivaniemi Peter S. White Seema Panchal Jennifer Cox R. Scott Winters Petra Riebeling Frank Tost Maria Hoeltzenbein Timo M. Tervo Wolfram Henn

Elke Denniger Matthias Krause Murat Koksal Sebnem Kargi Suat H. Ugurbas Terho Latvala

Amanda M. Shearman Jayne S. WeissFine mapping of the Schnyders crystalline corneal dystrophy locus Springer-Verlag 2004V. Theendakara G. Tromp H. Kuivaniemi S. Panchal J. Cox

Center for Molecular Medicine and Genetics,

Wayne State University School of Medicine, Detroit, USAH. KuivaniemiDepartment of Surgery, Wayne State University School of Medicine, Detroit, USAS. Panchal J. Cox J. S. WeissDepartment of Ophthalmology,

Wayne State University School of Medicine, Detroit, USAS. Panchal J. Cox J. S. Weiss ()Kresge Eye Institute, Wayne State University School of Medicine,

4717 St. Antoine, Detroit, MI 48201, USA

Tel.: [phone], Fax: [phone],

e-mail: [email protected]. S. White R. S. WintersDivision of Oncology, Childrens Hospital of Philadelphia,

University of Pennsylvania, Philadelphia, USAP. S. WhiteDepartment of Pediatrics, University of Pennsylvania,

Philadelphia, USAP. Riebeling F. TostAugenklinik der Universitt Greifswald, Greifswald, GermanyM. HoeltzenbeinMax-Planck-Institut fr Molekulare Genetik, Berlin, GermanyT. M. TervoHelsinki University Eye Hospital, Helsinki, FinlandW. HennDepartment of Human Genetics, Saarland University,

Homburg, GermanyE. Denniger M. KrauseDepartment of Ophthalmology, Saarland University,

Homburg, GermanyM. Koksal S. Kargi S. H. UgurbasDepartment of Ophthalmology, School of Medicine,

Zonguldak Karaelmas University, Zonguldak, TurkeyT. LatvalaTampere University Hospital Eye Clinic, Tampere, FinlandA. M. ShearmanCenter for Cancer Research, Massachusetts Institute of Technology, Cambridge, Mass., USAAbstract Schnyders 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...