PURPOSE: We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), 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 adRP 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 adRP 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 adRP. 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 adRP Spanish families. An increasing understanding of causal RHO alleles in adRP facilitates disease diagnosis and prognosis, especially for the prevalent p.Pro347Leu mutation.
PURPOSE: We aimed to determine the prevalence of mutations in the RHO gene in Spanish families with autosomal dominant Retinitis Pigmentosa (adRP), 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 adRP 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 adRP 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 adRP. 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 adRP Spanish families. An increasing understanding of causal RHO alleles in adRP facilitates disease diagnosis and prognosis, especially for the prevalent p.Pro347Leu mutation.
Authors: Hasenin Al-Khersan; Kaanan P Shah; Segun C Jung; Alex Rodriguez; Ravi K Madduri; Michael A Grassi Journal: Graefes Arch Clin Exp Ophthalmol Date: 2017-05-01 Impact factor: 3.117
Authors: Vera L Bonilha; Mary E Rayborn; Brent A Bell; Meghan J Marino; Craig D Beight; Gayle J Pauer; Elias I Traboulsi; Joe G Hollyfield; Stephanie A Hagstrom Journal: Graefes Arch Clin Exp Ophthalmol Date: 2015-07-23 Impact factor: 3.117
Authors: Fiona Blanco-Kelly; María García Hoyos; Miguel Angel Lopez Martinez; Maria Isabel Lopez-Molina; Rosa Riveiro-Alvarez; Patricia Fernandez-San Jose; Almudena Avila-Fernandez; Marta Corton; Jose M Millan; Blanca García Sandoval; Carmen Ayuso Journal: PLoS One Date: 2016-02-24 Impact factor: 3.240
Authors: Caroline Van Cauwenbergh; Frauke Coppieters; Dimitri Roels; Sarah De Jaegere; Helena Flipts; Julie De Zaeytijd; Sophie Walraedt; Charlotte Claes; Erik Fransen; Guy Van Camp; Fanny Depasse; Ingele Casteels; Thomy de Ravel; Bart P Leroy; Elfride De Baere Journal: PLoS One Date: 2017-01-11 Impact factor: 3.240
Authors: Song Liu; Jian Gang Bi; Yunlong Hu; Donge Tang; Bo Li; Peng Zhu; Wujian Peng; Dong Du; Huiyan He; Jun Zeng; Yong Dai Journal: Mol Genet Genomic Med Date: 2019-02-20 Impact factor: 2.183