Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome

Ioannis P Stathopoulos; George Trovas; Kalliopi Lampropoulou-Adamidou; Theodora Koromila; Panagoula Kollia; Nikolaos A Papaioannou; George Lyritis

doi:10.1016/j.bone.2012.10.027

Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome

Bone. 2013 Jan;52(1):366-71. doi: 10.1016/j.bone.2012.10.027. Epub 2012 Oct 29.

Authors

Ioannis P Stathopoulos¹, George Trovas, Kalliopi Lampropoulou-Adamidou, Theodora Koromila, Panagoula Kollia, Nikolaos A Papaioannou, George Lyritis

Affiliation

¹ Laboratory for Research of Musculoskeletal System Theodoros Garofalidis, University of Athens, KAT hospital, Athens, Greece. ipstathopoulos@gmail.com

PMID: 23117206
DOI: 10.1016/j.bone.2012.10.027

Abstract

Hajdu-Cheney syndrome (HCS) is a rare genetic disorder characterised by acro-osteolysis, skull deformation and generalised osteoporosis. Recently, truncating mutations in the last exon of NOTCH2, a protein-coding gene, were found to be responsible. We present the case of a young woman with HCS in whom clinical and radiologic diagnosis was confirmed with DNA tests.

Publication types

Case Reports

MeSH terms

Adult
Female
Hajdu-Cheney Syndrome / complications
Hajdu-Cheney Syndrome / genetics*
Humans
Mutation*
Osteoporosis / complications
Osteoporosis / genetics*
Receptor, Notch2 / genetics*

Substances

NOTCH2 protein, human
Receptor, Notch2