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Fine mapping of the Schnyder’s crystalline corneal dystrophy locus

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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.

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Acknowledgements

We thank SCCD family members for their participation and Dr. Howard Kruth for his insightful suggestions concerning the study. This work was supported in part by the National Eye Institute (grant EY12972 to J.S.W.).

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Authors and Affiliations

  1. Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, USA

    Veena Theendakara, Gerard Tromp, Helena Kuivaniemi, Seema Panchal & Jennifer Cox

  2. Department of Surgery, Wayne State University School of Medicine, Detroit, USA

    Helena Kuivaniemi

  3. Department of Ophthalmology, Wayne State University School of Medicine, Detroit, USA

    Seema Panchal, Jennifer Cox & Jayne S. Weiss

  4. Kresge Eye Institute, Wayne State University School of Medicine, 4717 St. Antoine, Detroit, MI 48201, USA

    Seema Panchal, Jennifer Cox & Jayne S. Weiss

  5. Division of Oncology, Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, USA

    Peter S. White & R. Scott Winters

  6. Department of Pediatrics, University of Pennsylvania, Philadelphia, USA

    Peter S. White

  7. Augenklinik der Universität Greifswald, Greifswald, Germany

    Petra Riebeling & Frank Tost

  8. Max-Planck-Institut für Molekulare Genetik, Berlin, Germany

    Maria Hoeltzenbein

  9. Helsinki University Eye Hospital, Helsinki, Finland

    Timo M. Tervo

  10. Department of Human Genetics, Saarland University, Homburg, Germany

    Wolfram Henn

  11. Department of Ophthalmology, Saarland University, Homburg, Germany

    Elke Denniger & Matthias Krause

  12. Department of Ophthalmology, School of Medicine, Zonguldak Karaelmas University, Zonguldak, Turkey

    Murat Koksal, Sebnem Kargi & Suat H. Ugurbas

  13. Tampere University Hospital Eye Clinic, Tampere, Finland

    Terho Latvala

  14. Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, Mass., USA

    Amanda M. Shearman

Authors
  1. Veena Theendakara
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  2. Gerard Tromp
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  3. Helena Kuivaniemi
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  4. Peter S. White
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  5. Seema Panchal
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  6. Jennifer Cox
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  7. R. Scott Winters
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  8. Petra Riebeling
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  9. Frank Tost
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  10. Maria Hoeltzenbein
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  11. Timo M. Tervo
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  12. Wolfram Henn
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  13. Elke Denniger
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  14. Matthias Krause
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  15. Murat Koksal
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  16. Sebnem Kargi
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  17. Suat H. Ugurbas
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  18. Terho Latvala
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  19. Amanda M. Shearman
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  20. Jayne S. Weiss
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Corresponding author

Correspondence to Jayne S. Weiss.

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Theendakara, V., Tromp, G., Kuivaniemi, H. et al. Fine mapping of the Schnyder’s crystalline corneal dystrophy locus. Hum Genet 114, 594–600 (2004). https://doi.org/10.1007/s00439-004-1110-1

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  • DOI: https://doi.org/10.1007/s00439-004-1110-1

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