Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

Alessandro De Luca, Isabella Torrente, Massimo Mangino, Rita Danesi, Bruno Dallapiccola, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review

Abstract

X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene in patients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G → A transition at nucleotide 449 (W150X), and a G → T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A → G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein.

Original languageEnglish
Pages (from-to)79-82
Number of pages4
JournalMutation Research - Mutation Research Genomics
Volume432
Issue number3-4
DOIs
Publication statusPublished - 2001

Keywords

  • Mutations
  • Retinitis pigmentosa
  • RP2

ASJC Scopus subject areas

  • Toxicology
  • Genetics

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