May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Prevalence of PRPF31 Mutations in ADRP Patients in UK Population
Author Affiliations & Notes
  • N.H. Waseem
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A.C. Yau
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • B. Scott
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Webster
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • S. Jenkins
    Moorfields Eye Hospital, London, United Kingdom
  • A.C. Bird
    Moorfields Eye Hospital, London, United Kingdom
  • E. Vithana
    SERI, Singapore, Singapore
  • S.S. Bhattacharya
    Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships  N.H. Waseem, None; A.C. Yau, None; B. Scott, None; A. Webster, None; S. Jenkins, None; A.C. Bird, None; E. Vithana, None; S.S. Bhattacharya, None.
  • Footnotes
    Support  Moorfields Eye Hospital Special Trustees Fund
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1807. doi:
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      N.H. Waseem, A.C. Yau, B. Scott, A. Webster, S. Jenkins, A.C. Bird, E. Vithana, S.S. Bhattacharya; Prevalence of PRPF31 Mutations in ADRP Patients in UK Population . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1807.

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

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Abstract

Abstract: : Purpose: To investigate the prevalence of PRPF31 mutations in a cohort of ADRP patients showing incomplete penetrance in their pedigrees and compare it with a panel of ADRP patients Methods: Fourteen exons of PRPF31 along with flanking regions were screened by direct sequencing of PCR products. Results: Four mutations were identified in a panel of 16 ADRP patients with incomplete penetrance phenotype. Of these four mutations, 2 were splice site mutations and 2 were missense mutations. In a cohort of 69 ADRP patients, 8 changes were identified. These are 1 11 bp deletion, 2 nonsense, 2 splice site and 3 missense mutations. None of these changes were identified in 192 control DNAs. Conclusions: PRPF31 mutations were identified in quarter of ADRP patients with incomplete penetrance in the family as compared with 12% in rest of ADRP cases.

Keywords: mutations • gene screening • retinitis 
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