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A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
- Source :
-
Retina (Philadelphia, Pa.) [Retina] 2006 Oct; Vol. 26 (8), pp. 947-53. - Publication Year :
- 2006
-
Abstract
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Adult
Aged
DNA Mutational Analysis
Exons genetics
Female
Fluorescein Angiography
Genes, Dominant
Humans
Male
Middle Aged
Pedigree
Peripherins
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Intermediate Filament Proteins genetics
Membrane Glycoproteins genetics
Mutation
Nerve Tissue Proteins genetics
Retinal Degeneration genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0275-004X
- Volume :
- 26
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Retina (Philadelphia, Pa.)
- Publication Type :
- Academic Journal
- Accession number :
- 17031298
- Full Text :
- https://doi.org/10.1097/01.iae.0000250010.60908.e3