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A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

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Abstract

Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting ∼1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction θ=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.

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Acknowledgements

We thank the family members for their participation in this study. We are grateful to Beverly Scott for excellent technical assistance. This research has been supported by grants from the European Union (HPRN-CT-2000-00098 and MRTN-CT-2003-504003), Foundation Fighting Blindness—USA, The Special Trustees of Moorfields Eye Hospital, Foundation Fighting Blindness—Canada and Fonds de la Recherche en Santé Quebec (RKK).

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Authors and Affiliations

  1. Department of Molecular Genetics, Institute of Ophthalmology, UCL, 11-43 Bath Street, London, EC1V 9EL, UK

    Myrto Papaioannou, Christina F. Chakarova, De Quincy C. Prescott, Naushin Waseem, Thorsten Theis, Bhavdip Gill & Shomi S. Bhattacharya

  2. McGill Ocular Genetics Laboratory, Montreal Children’s Hospital Research Institute, Montreal, QC, Canada

    Irma Lopez & Robert K. Koenekoop

Authors
  1. Myrto Papaioannou
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  2. Christina F. Chakarova
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  3. De Quincy C. Prescott
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  4. Naushin Waseem
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  5. Thorsten Theis
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  6. Irma Lopez
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  7. Bhavdip Gill
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  8. Robert K. Koenekoop
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  9. Shomi S. Bhattacharya
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Corresponding author

Correspondence to Shomi S. Bhattacharya.

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Papaioannou, M., Chakarova, C.F., Prescott, D.Q.C. et al. A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum Genet 118, 501–503 (2005). https://doi.org/10.1007/s00439-005-0063-3

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  • DOI: https://doi.org/10.1007/s00439-005-0063-3

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