Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families
| DOI: | 10.1136/jmg.2005.031682 |
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| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bafb572e2a8a75e78e657e8c736ec1 http://hdl.handle.net/11367/81288 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....98bafb572e2a8a75e78e657e8c736ec1 |
| Autor: | ZIVIELLO, C, SIMONELLI, F, TESTA, F, ANASTASI, Mario, M, MARZOLI, SB, FALSINI, B, GHIGLIO NR, D, MACALUSO, C, MANITTO, MP, GARRE, C, CICCODICOLA, A, RINALDI, E, BANFI |
| Přispěvatelé: | Ziviello, C, Simonelli, Francesca, Testa, Francesco, Anastasi, M, Marzoli, Sb, Falsini, B, Ghiglione, D, Macaluso, C, Manitto, Mp, Garre, C, Ciccodicola, A, Rinaldi, E, Banfi, Sandro, ZIVIELLO, SIMONELLI, TESTA, ANASTASI M, MARZOLI, SB, FALSINI, GHIGLIO NR, MACALUSO, MANITTO, MP, GARRE, CICCODICOLA, RINALDI, BANFI |
| Rok vydání: | 2005 |
| Předmět: |
Retinal degeneration
DNA Mutational Analysis medicine.disease_cause Gene Frequency Prevalence Age of Onset SPLICING-FACTOR GENES Child Genetics (clinical) Genes Dominant Genetics Mutation education.field_of_study RNA-Binding Proteins Middle Aged DNA-Binding Proteins Basic-Leucine Zipper Transcription Factors Italy Child Preschool MESSENGER-RNA Microtubule-Associated Proteins Retinitis Pigmentosa FORM Adult Rhodopsin medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Adolescent Population RHODOPSIN GENE Biology Molecular genetics Retinitis pigmentosa medicine Humans Family Eye Proteins education Gene Allele frequency Homeodomain Proteins MUTATIONS medicine.disease eye diseases Trans-Activators Mutation testing Online Mutation Report Carrier Proteins |
| Zdroj: | Journal of medical genetics 42 (2005). doi:10.1136/jmg.2005.031682 info:cnr-pdr/source/autori:Ziviello C.; Simonelli F.; Testa F.; Anastasi M.; Marzoli S.B.; Falsini B.; Ghiglione D.; Macaluso C.; Manitto M.P.; Garre C.; Ciccodicola A.; Rinaldi E.; Banfi S./titolo:Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families/doi:10.1136%2Fjmg.2005.031682/rivista:Journal of medical genetics (Print)/anno:2005/pagina_da:/pagina_a:/intervallo_pagine:/volume:42 Scopus-Elsevier |
| DOI: | 10.1136/jmg.2005.031682 |
| Popis: | Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous both clinically and genetically. The autosomal dominant forms ( ADRP) can be caused by mutations in 12 different genes. This report describes the first simultaneous mutation analysis of all the known ADRP genes in the same population, represented by 43 Italian families. This analysis allowed the identification of causative mutations in 12 of the families (28% of the total). Seven different mutations were identified, two of which are novel (458delC and 6901C --> T (P2301S), in the CRX and PRPF8 genes, respectively). Several novel polymorphisms leading to amino acid changes in the FSCN2, NRL, IMPDH1, and RP1 genes were also identified. Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations. As causative mutations were not found in over 70% of the families analysed, this study suggests the presence of further novel genes or sequence elements involved in the pathogenesis of ADRP. |
| Databáze: | OpenAIRE |
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