title: Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.
abstract: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an important diagnosis because of the possible involvement of other family members and risk of malignant disease. We report clinical and genetic studies in a previously undocumented Australian family with HPT-JT. The proband and his sister presented with bilateral or recurrent mandibular radiolucencies diagnosed histopathologically as cemento-ossifying fibromas. Mutation screening of the recently identified disease gene HRPT2 was performed by direct sequencing in 3 affected members. This revealed a novel mutation in exon 1 of HRPT2 (nt 20AGGACG --> GGGAG), which is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation. The terminology used for the jaw lesions in this syndrome warrants review to become more consistent. Cemento-ossifying fibroma is the preferred term to better reflect the pathologies found in most individuals and families,and to emphasize the significance of the jaw lesions in the diagnosis of the syndrome.
authors.affiliation: Dorevitch Pathology, Victoria 3084, Australia. oralpathologists@maynegroup.com
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Aldred
authors.forename: Anna A
authors.initials: AA
authors.lastname: Talacko
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Vince
authors.initials: V
authors.lastname: Murdolo
authors.forename: Alan E
authors.initials: AE
authors.lastname: Mills
authors.forename: Bryan G
authors.initials: BG
authors.lastname: Radden
authors.forename: Andrei
authors.initials: A
authors.lastname: Alimov
authors.forename: Andrea
authors.initials: A
authors.lastname: Villablanca
authors.forename: Catharina
authors.initials: C
authors.lastname: Larsson
mesh_terms: D000236:Adenoma / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001315:Australia; D002485:Cementoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D018214:Fibroma, Ossifying / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008339:Mandibular Neoplasms / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D010282:Parathyroid Neoplasms / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014092:Tooth Root / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C454900:CDC73 protein, human; D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins