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...

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Bibliographic Details
Published in:Croatian medical journal 2015-02, Vol.56 (1), p.63-67
Main Authors: Škodrić-Trifunović, Vesna, Stjepanović, Mihailo, Savić, Živorad, Ilić, Miroslav, Kavečan, Ivana, Jovanović Privrodski, Jadranka, Spasovski, Vesna, Stojiljković, Maja, Pavlović, Sonja
Format: Article
Language:English
Subjects:
Analysis
Basal cell carcinoma
Basal Cell Nevus Syndrome - diagnostic imaging
Basal Cell Nevus Syndrome - genetics
Basal Cell Nevus Syndrome - pathology
Care and treatment
Case Report
Case studies
Codon, Nonsense
DNA Mutational Analysis
Exons - genetics
Female
Frameshift Mutation
Gene mutations
Genetic aspects
Humans
Male
Mandibular Neoplasms - diagnostic imaging
Mandibular Neoplasms - genetics
Mandibular Neoplasms - pathology
Middle Aged
Patched Receptors
Patched-1 Receptor
Pedigree
Polymerase Chain Reaction
Receptors, Cell Surface - genetics
Risk factors
Tomography, X-Ray Computed
Young Adult
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Summary: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).
ISSN:0353-9504
1332-8166
DOI:10.3325/cmj.2015.56.63