Searchable abstracts of presentations at key conferences in endocrinology

ea0063p467 | Calcium and Bone 2 | ECE2019

Discovery of a novel NOTCH2 mutation causing Hajdu Cheney Syndrome in a kindred with remarkable phenotypic diversity

Efstathiadou Zoe , Kostoulas Charilaos , Polyzos Stergios , Kalograni Fani , Tirkalas Sotirios , Adamidou Fotini , Georgiou Ioannis , Kita Marina

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or CrohnÂ’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...