title: Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.
abstract: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental and skeletal anomalies, palmo-plantar pits, odontogenic keratocysts, ectopic calcification, and occurrence of various types of tumors including basal cell carcinoma. Recent evidence has indicated that the human homologue of a Drosophila segment polarity gene, PTCH, is a NBCCS susceptibility gene. In the study presented here, we detected two novel mutations of the PTCH gene, I805X/2395delC and Y93X/C297A, in two unrelated Japanese patients. Early protection of the skin from the sunlight is important to the prevention of BCC development in NBCCS patients. Genetic analysis of the PTCH gene is essential for the early, definitive diagnosis of NBCCS, especially before the expression of clinical manifestations is complete.
authors.affiliation: Department of Dermatology, University of Tokushima School of Medicine, 770-8503, Tokushima, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Minami
authors.forename: Y
authors.initials: Y
authors.lastname: Urano
authors.forename: T
authors.initials: T
authors.lastname: Ishigami
authors.forename: H
authors.initials: H
authors.lastname: Tsuda
authors.forename: J
authors.initials: J
authors.lastname: Kusaka
authors.forename: S
authors.initials: S
authors.lastname: Arase
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface
chemical_list: D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface