A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
| Autor: | Pajic B; Klinik Pallas, Department of Ophthalmology, Olten, Switzerland. bpajic@datacomm.ch, Weigell-Weber M, Schipper I, Kryenbühl C, Büchi ER, Spiegel R, Hergersberg M |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Retina (Philadelphia, Pa.) [Retina] 2006 Oct; Vol. 26 (8), pp. 947-53. |
| DOI: | 10.1097/01.iae.0000250010.60908.e3 |
| Abstrakt: | 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: | MEDLINE |
| Externí odkaz: |
|