title: Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
abstract: Mutations in the human patched gene have recently been detected in patients with naevoid basal cell carcinoma syndrome. We have characterised a further 5 novel germ line mutations in patients presenting with multiple odontogenic keratocysts. Four mutations cause premature stop codons and one mutation results in an amino-acid substitution towards the carboxyl terminus of the predicted patched protein. No obvious genotype-phenotype correlations could be interpreted, consistent with previous studies.
authors.affiliation: Molecular Medicine Unit, St. James's University Hospital, Leeds, UK. desnl@stjames.leeds.ac.uk
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: E A
authors.initials: EA
authors.lastname: Telford
authors.forename: A S
authors.initials: AS
authors.lastname: High
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: C
authors.initials: C
authors.lastname: Wicking
authors.forename: B J
authors.initials: BJ
authors.lastname: Wainwright
mesh_terms: D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002648:Child; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000072079:Patched Receptors; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface
chemical_list: D018388:Codon, Terminator; D008565:Membrane Proteins; D000072079:Patched Receptors; D011956:Receptors, Cell Surface