Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene

To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family. Clinical examination revealed the typical RP phenot...

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Bibliographic Details
Published in:European journal of ophthalmology 2006-09, Vol.16 (5), p.779-781
Main Authors: Testa, F, Ziviello, C, Rinaldi, M, Rossi, S, Di Iorio, V, Interlandi, E, Ciccodicola, A, Banfi, S, Simonelli, F
Format: Article
Language:English
Subjects:
Carrier Proteins - genetics
DNA - genetics
Electroretinography
Female
Humans
Italy
Male
Mutation
Ophthalmoscopy
Pedigree
Phenotype
Retinitis Pigmentosa - diagnosis
Retinitis Pigmentosa - genetics
RNA-Binding Proteins
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Summary:To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene. PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family. Clinical examination revealed the typical RP phenotype in all family members. Electroretinography showed preserved ERG photopic responses. Genetic analysis showed that the P2301S missense mutation segregated with the disease in all subjects. Unlike previously reported families, the PRPF8 gene mutation in our family is associated with a mild phenotype in which cone function is partially preserved.
ISSN:1120-6721
1724-6016
DOI:10.1177/112067210601600524