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Title: Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
Authors: González-del Pozo, María E.
Borrego, Salud
Barragán, Isabel
Pieras, Juan I
Santoyo, Javier
Matamala, Nerea
Naranjo, Belén
Dopazo, Joaquín
Antiñolo, Guillermo
metadata.dc.contributor.authoraffiliation: [González-del Pozo,M; Borrego,S; Barragán,I; Pieras,JI; Matamala,N; Naranjo,B; Antiñolo,G] Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. [González-del Pozo,M; Borrego,S; Barragán,I; Pieras,JI; Santoyo,J; Dopazo,J; Antiñolo,G] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),Sevilla, Spain. [Santoyo,J; Matamala,N; Dopazo,J; Antiñolo,G ] Medical Genome Project, Andalusian Center for Human Genomic Sequencing, Sevilla, Spain. [Santoyo,J; Dopazo,J] Departamento de Bioinformática y Genómica, Centro de Investigación Príncipe Felipe, Valencia, Spain. [Dopazo,J] Functional Genomics Node (INB), Valencia, Spain.
Keywords: Retinitis Pigmentosa;España;Análisis de Micromatrices
metadata.dc.subject.mesh: Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Eye Diseases, Hereditary::Retinitis Pigmentosa
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Chemistry Techniques, Analytical::Microchip Analytical Procedures::Microarray Analysis
Medical Subject Headings::Geographicals
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Issue Date: 2-Dec-2011
Publisher: PLoS
Citation: González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.PLoS ONE 2011; 6(12): e27894.
Abstract: Retinitis Pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. RP is the leading cause of visual loss in individuals younger than 60 years, with a prevalence of about 1 in 4000. The molecular genetic diagnosis of autosomal recessive RP (arRP) is challenging due to the large genetic and clinical heterogeneity. Traditional methods for sequencing arRP genes are often laborious and not easily available and a screening technique that enables the rapid detection of the genetic cause would be very helpful in the clinical practice. The goal of this study was to develop and apply microarray-based resequencing technology capable of detecting both known and novel mutations on a single high-throughput platform. Hence, the coding regions and exon/intron boundaries of 16 arRP genes were resequenced using microarrays in 102 Spanish patients with clinical diagnosis of arRP. All the detected variations were confirmed by direct sequencing and potential pathogenicity was assessed by functional predictions and frequency in controls. For validation purposes 4 positive controls for variants consisting of previously identified changes were hybridized on the array. As a result of the screening, we detected 44 variants, of which 15 are very likely pathogenic detected in 14 arRP families (14%). Finally, the design of this array can easily be transformed in an equivalent diagnostic system based on targeted enrichment followed by next generation sequencing.
Description: Research article
metadata.dc.identifier.doi: 10.1371/journal.pone.0027894
ISSN: 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Virgen del Rocío
01- Artículos - IBIS. Instituto de Biomedicina de Sevilla

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