title: A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome.
abstract: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare variant of familial hyperparathyroidism, characterized by primary hyperparathyroidism (PHPT) due to one or multiple parathyroid adenomas, and benign tumours of the mandible and maxilla. It has an autosomal dominant pattern of inheritance, and is associated with mutations that deactivate the cell division cycle protein 73 homolog (CDC73) gene, also known as hyperparathyroidism 2 (HRPT2), located on the long arm of chromosome 1, that encodes for the tumour suppressor protein parafibromin. In the majority of cases, PHPT is the presenting symptom, but up to 30 % of HPT-JT cases initially present with an ossifying fibroma of the maxillofacial bones. HPT-JT may result in severe hypercalcemia-related complications and an elevated risk of parathyroid carcinoma. For this reason, early identification of the disease is important. We present the case of a 23-year-old woman who was found to have jaw tumours and was later diagnosed with PHPT. Genetic analysis revealed a novel mutation in exon 1 of CDC73. This report contributes to the understanding of the genetics of this rare syndrome. It also highlights the fact that HPT-JT should be considered and CDC73 mutation analysis should be performed in cases of early-onset PHPT associated with ossifying fibromas of the jaw.
authors.affiliation: Department of Endocrinology, Cruces University Hospital, Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain. virginiabellido@gmail.com.|University of the Basque Country, Leioa, Spain. virginiabellido@gmail.com.
authors.forename: Virginia
authors.initials: V
authors.lastname: Bellido
authors.affiliation: Department of Endocrinology, Cruces University Hospital, Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain.
authors.forename: Ihintza
authors.initials: I
authors.lastname: Larrañaga
authors.affiliation: Department of Endocrinology, Cruces University Hospital, Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain.
authors.forename: Maite
authors.initials: M
authors.lastname: Guimón
authors.affiliation: Oral Medicine Unit, Oral and Maxillofacial Pathology Unit, Faculty of Medicine and Dentistry, UFI 11/25, University of the Basque Country, Leioa, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Martinez-Conde
authors.affiliation: Oral Medicine Unit, Oral and Maxillofacial Pathology Unit, Faculty of Medicine and Dentistry, UFI 11/25, University of the Basque Country, Leioa, Spain.
authors.forename: Asier
authors.initials: A
authors.lastname: Eguia
authors.affiliation: BioCruces Health Research Institute, Vizcaya, Spain.|CIBERER (Center for Biomedical Research on Rare Diseases), Carlos III Health Institute, Madrid, Spain.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Perez de Nanclares
authors.affiliation: University of the Basque Country, Leioa, Spain.|BioCruces Health Research Institute, Vizcaya, Spain.|CIBERER (Center for Biomedical Research on Rare Diseases), Carlos III Health Institute, Madrid, Spain.|CIBERDEM (Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders), Carlos III Health Institute, Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Castaño
authors.affiliation: Department of Endocrinology, Cruces University Hospital, Plaza de Cruces s/n, 48903, Barakaldo, Vizcaya, Spain.|University of the Basque Country, Leioa, Spain.|BioCruces Health Research Institute, Vizcaya, Spain.|CIBERER (Center for Biomedical Research on Rare Diseases), Carlos III Health Institute, Madrid, Spain.|CIBERDEM (Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders), Carlos III Health Institute, Madrid, Spain.
authors.forename: Sonia
authors.initials: S
authors.lastname: Gaztambide
mesh_terms: D000236:Adenoma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005350:Fibroma / Q000235:genetics*; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics*; D007573:Jaw Neoplasms / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C454900:CDC73 protein, human; D025521:Tumor Suppressor Proteins
keywords: CDC73 gene; HRPT2 gene; Jaw tumour; Ossifying fibroma; Primary hyperparathyroidism