title: Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
abstract: The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified.
authors.affiliation: Intramural Research Support Program, Scientific Application International Corp., Frederick, Maryland 21702, USA.
authors.forename: A
authors.initials: A
authors.lastname: Chidambaram
authors.forename: A M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: M R
authors.initials: MR
authors.lastname: Gailani
authors.forename: B
authors.initials: B
authors.lastname: Gerrard
authors.forename: S J
authors.initials: SJ
authors.lastname: Bale
authors.forename: J J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: A E
authors.initials: AE
authors.lastname: Bale
authors.forename: M
authors.initials: M
authors.lastname: Dean
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000208:ethnology / Q000235:genetics*; D044383:Black People / Q000235:genetics; D003062:Codon / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: D003062:Codon; D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface