title: Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report.
abstract: Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.
authors: Department of Head and Neck Surgery, Division of Dermatology, University of Modena and Reggio Emilia, Modena.
authors: Giovanni
authors: G
authors: Ponti
authors: Annamaria
authors: A
authors: Pollio
authors: Lorenza
authors: L
authors: Pastorino
authors: Giovanni
authors: G
authors: Pellacani
authors: Cristina
authors: C
authors: Magnoni
authors: Sabina
authors: S
authors: Nasti
authors: Giulio
authors: G
authors: Fortuna
authors: Aldo
authors: A
authors: Tomasi
authors: Giovanna Bianchi
authors: GB
authors: Scarrà
authors: Stefania
authors: S
authors: Seidenari