A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY
| Autor: | Isaak Schipper, Bojan Pajic, Ernst R. Büchi, Christoph KRYENBüHL, Maike Weigell-Weber, Martin Hergersberg, Roland Spiegel |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Candidate gene DNA Mutational Analysis Peripherins Nerve Tissue Proteins medicine.disease_cause Polymerase Chain Reaction Exon Intermediate Filament Proteins medicine Humans Fluorescein Angiography Gene Polymorphism Single-Stranded Conformational Aged Genes Dominant Genetics Mutation Membrane Glycoproteins business.industry Retinal Degeneration Autosomal dominant trait Single-strand conformation polymorphism Peripherin Exons General Medicine Middle Aged eye diseases Stop codon Pedigree Ophthalmology Female sense organs business |
| Zdroj: | Retina. 26:947-953 |
| ISSN: | 0275-004X |
| DOI: | 10.1097/01.iae.0000250010.60908.e3 |
| Popis: | PURPOSE To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. METHODS Clinical data were collected from family members of a large Swiss family affected by autosomal dominant retinal pattern dystrophy. Single strand conformation polymorphism (SSCP) analysis of the candidate gene peripherin/RDS and subsequent sequencing of the first exon were performed. RESULTS Pattern dystrophy of the retina was suspected in 18 family members aged 30 years or older. Assuming a homogeneous phenotype, the candidate locus peripherin/RDS was investigated. SSCP analysis of the first exon of the peripherin/RDS gene showed an aberrant pattern in 18 affected individuals. Direct sequencing of polymerase chain reaction products detected a complex mutation, del265-268GCCA ins AGGGCC, leading to a stop codon at amino acid position 99. CONCLUSION To our knowledge, we report the first complex mutation in the peripherin/RDS gene as the cause of a mild macular phenotype, supporting the importance of molecular diagnosis in genetic counseling. |
| Databáze: | OpenAIRE |
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