May 2005
Volume 46, Issue 13
ARVO Annual Meeting Abstract  |   May 2005
Homozygosity Mapping of Pigmentary Retinopathy, Ataxia and Sudden Death to a Novel Locus on Chromsome 5q
Author Affiliations & Notes
  • A.H. Nemeth
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
  • S.M. Downes
    Oxford Eye Hospital, Radcliffe Infirmary, Oxford, United Kingdom
  • M. Pike
    Department of Paediatrics, John Radcliffe Hospital, Oxford, United Kingdom
  • G. Nürnberg
    Cologne Center for Genomics, Cologne, Germany
  • P. Nürnberg
    Cologne Center for Genomics, Cologne, Germany
  • Footnotes
    Commercial Relationships  A.H. Nemeth, None; S.M. Downes, None; M. Pike, None; G. Nürnberg, None; P. Nürnberg, None.
  • Footnotes
    Support  Oxfordshire Health Services Research Committee Research Grant 758
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3830. doi:
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      A.H. Nemeth, S.M. Downes, M. Pike, G. Nürnberg, P. Nürnberg; Homozygosity Mapping of Pigmentary Retinopathy, Ataxia and Sudden Death to a Novel Locus on Chromsome 5q . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3830.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose:To characterise the phenotype and identify the disease–causing gene in a family with pigmentary retinopathy, ataxia and sudden death. Methods: Ophthalmic and neurologic examinations and metabolic and mitochondrial screening were performed on 4 siblings (3 affected) from a small consanguineous family of Pakistani origin. A genome–wide search for homozygosity by descent was performed using DNA from 14 family members including the 3 deceased affected siblings, an unaffected sibling, the parents and more distant family members, using the GeneChip Human Mapping 10K Array from Affymetrix. Data were analysed using the software ALOHOMORA (Ruschendorf and Nürnberg, 2004). Results: Homozygosity by descent (HBD) was identified in all 3 affected children on chromosome 5q with a maximum lod score of 2.6. No other regions of HBD were identified. Conclusions: We have identified a novel chromosomal locus for a pigmentary retinopathy associated with ataxia and sudden death. The use of "SNP microarray" chips for genomewide scans is a powerful new tool for homozygosity mapping even in small families.

Keywords: linkage analysis • retinal degenerations: hereditary • gene mapping 

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