Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Maria Savino, Maria d'Apolito, Vincenza Formica, Filomena Baorda, Francesca Mari, Alessandra Renieri, Enrico Carabba, Enrico Tarantino, Elena Andreucci, Serena Belli, Lorenzo Lo Muzio, Bruno Dallapiccola, Leopoldo Zelante, Anna Savoia

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Abstract

The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndrome is the PTCH tumor suppressor gene encoding for the sonic hedgehog receptor. In this paper, we report thirteen novel mutations identified in the first screening of NBCCS patients in Italy. Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein.

Original languageEnglish
Pages (from-to)441
Number of pages1
JournalHuman Mutation
Volume24
Issue number5
Publication statusPublished - Nov 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Savino, M., d'Apolito, M., Formica, V., Baorda, F., Mari, F., Renieri, A., Carabba, E., Tarantino, E., Andreucci, E., Belli, S., Lo Muzio, L., Dallapiccola, B., Zelante, L., & Savoia, A. (2004). Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. Human Mutation, 24(5), 441.