Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
Copyright policy )Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
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.
Male, Patched Receptors, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, PTCH gene, Gene Duplication, Humans, Amino Acid Sequence, Genetic Testing, Alleles, Base Sequence, Carcinoma, Basal Cell Nevus Syndrome, Exons, Pedigree, Patched-1 Receptor, Italy, Codon, Nonsense, Mutation, Female, RNA Splice Sites
Male, Patched Receptors, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, PTCH gene, Gene Duplication, Humans, Amino Acid Sequence, Genetic Testing, Alleles, Base Sequence, Carcinoma, Basal Cell Nevus Syndrome, Exons, Pedigree, Patched-1 Receptor, Italy, Codon, Nonsense, Mutation, Female, RNA Splice Sites
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