Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

6533b820fe1ef96bd1279be3

RESEARCH PRODUCT

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families

C Ziviello F Simonelli F Testa Mario Anastasi Marzoli M Falsini Sb B Ghiglio Nr Macaluso D Manitto C Garre Mp Ciccodicola C Rinaldi A Banfi E S.

subject

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 Genetics medicine Humans Family Eye Proteins education Gene Allele frequency Homeodomain Proteins MUTATIONS medicine.disease eye diseases Mutation Trans-Activators Mutation testing Online Mutation Report Carrier Proteins

description

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.

year	journal	country	edition	language
2005-07-01

10.1136/jmg.2005.031682 http://hdl.handle.net/11367/81288