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Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
Author(s) -
FernandezSan Jose Patricia,
BlancoKelly Fiona,
Corton Marta,
TrujilloTiebas MariaJose,
Gimenez Ascension,
AvilaFernandez Almudena,
GarciaSandoval Blanca,
LopezMolina MariaIsabel,
Hernan Inma,
Carballo Miguel,
RiveiroAlvarez Rosa,
Ayuso Carmen
Publication year - 2015
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.12486
Subject(s) - retinitis pigmentosa , sanger sequencing , genotyping , genetics , genotype , genotype phenotype distinction , mutation , phenotype , allele , biology , gene , medicine
Abstract Purpose We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (ad RP ), to assess genotype–phenotype correlations and to establish an accurate diagnostic algorithm after 23 years of data collection. Patients and Methods Two hundred patients were analysed through a combination of denaturing gradient gel electrophoresis, single‐strand conformation polymorphism, genotyping microarray and Sanger sequencing of the RHO gene. Results Overall, 42 of 200 Spanish ad RP families were mutated for RHO (21.0%). Twenty‐seven different RHO mutations were detected; seven of them were novel. A genotype–phenotype correlation was established with clinical data from 107 patients. The most prevalent p.Pro347Leu mutation, responsible for 4.5% (9/200) of all mutated ad RP families, was associated with a phenotype of early onset and severe course diffuse RP . Conclusions This retrospective study provides a wide spectrum of mutations in the RHO gene in Spanish patients with ad RP . Also, the prevalence of mutations is similar to that reported in European population. Genotyping microarray followed by RHO sequencing is proposed as a first step in molecular diagnosis of ad RP Spanish families. An increasing understanding of causal RHO alleles in ad RP facilitates disease diagnosis and prognosis, especially for the prevalent p.Pro347Leu mutation.