title: A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.
abstract: Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.
authors: Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, Kayseri, Turkey.
authors: Gozde
authors: G
authors: Ozcan
authors: Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors: Burhan
authors: B
authors: Balta
authors: Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, Kayseri, Turkey.
authors: Ahmet Ercan
authors: AE
authors: Sekerci
authors: Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Erciyes University, Kayseri, Turkey.
authors: Osman A
authors: OA
authors: Etoz
authors: Genetics of Rare Cancers, IRCCS Azienda Ospedaliera Universitaria San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.
authors: Claudia
authors: C
authors: Martinuzzi
authors: Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
authors: Ozlem
authors: O
authors: Kara
authors: Genetics of Rare Cancers, IRCCS Azienda Ospedaliera Universitaria San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy.
authors: Lorenza
authors: L
authors: Pastorino
authors: Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, Kayseri, Turkey.
authors: Fatma
authors: F
authors: Kocoglu
authors: Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, Kayseri, Turkey.
authors: Omer
authors: O
authors: Ulker
authors: Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.
authors: Murat
authors: M
authors: Erdogan
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D002280:Basal Cell Carcinoma / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D006257:Head / Q000000981:diagnostic imaging / Q000473:pathology; D006651:Histocytochemistry; D006801:Humans; D007573:Jaw Neoplasms / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008853:Microscopy; D020125:Mutation, Missense; D009808:Odontogenic Tumors / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000072081:Patched-1 Receptor / Q000235:genetics*; D011862:Radiography, Panoramic; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
chemical_list: C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor