Searchable abstracts of presentations at key conferences in endocrinology

ea0056p647 | Endocrine tumours and neoplasia | ECE2018

New germline mutation of the CDC73 gene in a Romanian family with hyperparathyroidism-jaw tumour syndrome

Grigorie Daniel , Ciuffi Simone , Franceschelli Francesco , Sucaliuc Alina , Brandi Maria Luisa

Introduction: Hyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of familial hyperparathyroidism associated with ossifying fibromas (OF) of the maxillofacial bones and increased risk of parathyroid carcinoma, caused by inactivating germline mutation of the cell division cycle 73 (CDC73) gene.Case report: We report the first Romanian family with HPT-JT and genetic screening of CDC73 gene. Three of the six...