hrp0084fc2.2 | Bone & Mineral Metabolism | ESPE2015

Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients

Li Dong , Schnellbacher Sarah , Tian Lifeng , Hou Cuiping , Kim Cecilia , Hakonarson Hakon , Levine Michael

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...