Human Genetics

, Volume 114, Issue 6, pp 594–600

Fine mapping of the Schnyder’s crystalline corneal dystrophy locus

  • Veena 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. Weiss
Original Investigation

DOI: 10.1007/s00439-004-1110-1

Cite this article as:
Theendakara, V., Tromp, G., Kuivaniemi, H. et al. Hum Genet (2004) 114: 594. doi:10.1007/s00439-004-1110-1

Abstract

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.

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Veena Theendakara
    • 1
  • Gerard Tromp
    • 1
  • Helena Kuivaniemi
    • 1
    • 2
  • Peter S. White
    • 5
    • 6
  • Seema Panchal
    • 1
    • 3
    • 4
  • Jennifer Cox
    • 1
    • 3
    • 4
  • R. Scott Winters
    • 5
  • Petra Riebeling
    • 7
  • Frank Tost
    • 7
  • Maria Hoeltzenbein
    • 8
  • Timo M. Tervo
    • 9
  • Wolfram Henn
    • 10
  • Elke Denniger
    • 11
  • Matthias Krause
    • 11
  • Murat Koksal
    • 12
  • Sebnem Kargi
    • 12
  • Suat H. Ugurbas
    • 12
  • Terho Latvala
    • 13
  • Amanda M. Shearman
    • 14
  • Jayne S. Weiss
    • 3
    • 4
  1. 1.Center for Molecular Medicine and GeneticsWayne State University School of MedicineDetroitUSA
  2. 2.Department of SurgeryWayne State University School of MedicineDetroitUSA
  3. 3.Department of OphthalmologyWayne State University School of MedicineDetroitUSA
  4. 4.Kresge Eye InstituteWayne State University School of MedicineDetroitUSA
  5. 5.Division of Oncology, Children’s Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA
  6. 6.Department of PediatricsUniversity of PennsylvaniaPhiladelphiaUSA
  7. 7.Augenklinik der Universität GreifswaldGreifswaldGermany
  8. 8.Max-Planck-Institut für Molekulare GenetikBerlinGermany
  9. 9.Helsinki University Eye HospitalHelsinkiFinland
  10. 10.Department of Human GeneticsSaarland UniversityHomburgGermany
  11. 11.Department of OphthalmologySaarland UniversityHomburgGermany
  12. 12.Department of Ophthalmology, School of MedicineZonguldak Karaelmas UniversityZonguldakTurkey
  13. 13.Tampere University Hospital Eye ClinicTampereFinland
  14. 14.Center for Cancer ResearchMassachusetts Institute of TechnologyCambridgeUSA

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