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Scientific article
English

A novel complex mutation event in the peripherin/rds gene in a family with retinal pattern dystrophy

Published inRetina, vol. 26, no. 8, p. 947-953
Publication date2006-10
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.

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.

eng
Keywords
  • Peripherin/RDS gene mutation
  • Pattern dystrophy of the retina
Affiliation Not a UNIGE publication
Citation (ISO format)
PAJIC, Bojan et al. A novel complex mutation event in the peripherin/rds gene in a family with retinal pattern dystrophy. In: Retina, 2006, vol. 26, n° 8, p. 947–953. doi: 10.1097/01.iae.0000250010.60908.e3
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ISSN of the journal0275-004X
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