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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)
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.
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