Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.
Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C>A).
Vesna
V
Škodrić-Trifunović
Mihailo
M
Stjepanović
Živorad
Ž
Savić
Miroslav
M
Ilić
Ivana
I
Kavečan
Jadranka
J
Jovanović Privrodski
Vesna Spasovski, Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, 11000 Belgrade, Serbia, vesna.spasovski@imgge.bg.ac.rs.
Vesna
V
Spasovski
Maja
M
Stojiljković
Sonja
S
Pavlović
D001478:Basal Cell Nevus Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008339:Mandibular Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D055815:Young Adult
D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface