title: [PTCH1 gene analysis in 25 Japanese patients with Gorlin syndrome].
abstract: Gorlin syndrome is an autosomal dominant disorder characterized by congenital anomalies and tumorigenesis. The gene responsible for Gorlin syndrome is PTCH1, a human homologue of the Drosophila segment polarity gene, patched. We analysed the PTCH1 gene in 25 patients in 22 families with Gorlin syndrome. We detected PTCH1 mutations in 22 patients in 19 families, including insertion/deletion mutations in 13 patients in 11 families (86%), chromosomal deletions in 4 patients in 3 families (16%), nonsense mutations in 2 patients in 2 families (11%), splicing mutations in 3 patients in 3 families (16%), and a missense mutation in 1 patient (5.3%). The sixteen mutations were distributed in extracellular loops (10 mutations: 63%), intracellular loops (four mutations: 25%), and transmembrane portions (two mutations: 13%). Our detection rate of PTCH1 mutations, i.e., 86%, was much higher than those previously reported from other countries. The differences may be derived either from ethnicity or the detection methods.
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba. mamiko1101@nifty.com
authors.forename: Mamiko
authors.initials: M
authors.lastname: Endo
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Miyashita
authors.forename: Hideki
authors.initials: H
authors.lastname: Uchikawa
authors.forename: Ryo
authors.initials: R
authors.lastname: Tanabe
authors.forename: Katsuo
authors.initials: K
authors.lastname: Sugita
authors.forename: Hidee
authors.initials: H
authors.lastname: Arai
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Kohno
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface