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 journalArticle

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

Fingerprint

Retinitis Pigmentosa
Exons
Genes
Mutation
Nucleotides
Proteins
Cloning
Single-Stranded Conformational Polymorphism
Conformations
Terminator Codon
Screening
Sequence Analysis
Organism Cloning

Keywords

  • Mutations
  • Retinitis pigmentosa
  • RP2

ASJC Scopus subject areas

  • Toxicology
  • Genetics

Cite this

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. / De Luca, Alessandro; Torrente, Isabella; Mangino, Massimo; Danesi, Rita; Dallapiccola, Bruno; Novelli, Giuseppe.

In: Mutation Research - Mutation Research Genomics, Vol. 432, No. 3-4, 2001, p. 79-82.

Research output: Contribution to journalArticle

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AU - Mangino, Massimo

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AU - Dallapiccola, Bruno

AU - Novelli, Giuseppe

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AB - 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.

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