1. Molecular characterisation of Italian Nevoid Basal Cell Carcinoma Syndrome patients
- Author
-
Sabina Nasti, Sara Gliori, Maria Barile, G. Ghigliotti, F. Forzano, Giovanna Bianchi-Scarrà, M. Muggianu, Francesca Faravelli, C. Baldo, Lorenzo Lo Muzio, Lorenza Pastorino, M.G. Lacaita, and Roberto Cusano
- Subjects
Patched ,Adult ,Male ,Patched Receptors ,Adolescent ,Nonsense mutation ,DNA Mutational Analysis ,Molecular Sequence Data ,Mutation, Missense ,Nevoid basal-cell carcinoma syndrome ,Receptors, Cell Surface ,Biology ,Germline ,Frameshift mutation ,Consensus Sequence ,Genetics ,medicine ,Coding region ,Missense mutation ,Humans ,Point Mutation ,Basal cell carcinoma ,Amino Acid Sequence ,Child ,Frameshift Mutation ,Genetics (clinical) ,Sequence Homology, Amino Acid ,Reverse Transcriptase Polymerase Chain Reaction ,Basal Cell Nevus Syndrome ,Middle Aged ,medicine.disease ,Patched-1 Receptor ,stomatognathic diseases ,Phenotype ,Italy ,Codon, Nonsense ,Cancer research ,Female ,RNA Splice Sites ,Sequence Alignment - Abstract
Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations. © 2005 Wiley-Liss, Inc.
- Published
- 2005