Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep646 | Endocrine tumours and neoplasia | ECE2016

A novel mutation of the menin gene in a family with multiple endocrine neoplasia type 1

Nahit Sendur Suleyman , Dogrul Ahmet , Kabacam Serkan , Abbasoglu Osman , Onder Sevgen , Sokmensuer Cenk , Erbas Belkis , Dagdelen Selcuk , Alikasifoglu Mehmet , Erbas Tomris

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant genetic disorder characterized by parathyroid adenomas, enteropancreatic endocrine tumors and anterior pituitary adenomas. It is caused by inactivating mutations of the MEN1 tumor suppressor gene, encoding menin (chromosome 11q13). A large family with several members affected were evaluated for clinical and genetic characteristic of MEN1.The index male patient (42 yr) presented ...