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

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...

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Veröffentlicht in:	Bone (New York, N.Y.) N.Y.), 2013-01, Vol.52 (1), p.366-371
Hauptverfasser:	Stathopoulos, Ioannis P, Trovas, George, Lampropoulou-Adamidou, Kalliopi, Koromila, Theodora, Kollia, Panagoula, Papaioannou, Nikolaos A, Lyritis, George
Format:	Artikel
Sprache:	eng
Schlagworte:	Acro-osteolysis Adult Biological and medical sciences Diseases of the osteoarticular system DNA Exons Female Fundamental and applied biological sciences. Psychology Hajdu-Cheney Syndrome - complications Hajdu-Cheney Syndrome - genetics Hajdu–Cheney syndrome Humans Medical sciences Mutation NOTCH2 mutation Notch2 protein Orthopedics Osteoporosis Osteoporosis - complications Osteoporosis - genetics Osteoporosis. Osteomalacia. Paget disease Receptor, Notch2 - genetics Skeletal dysplasia Skull Vertebrates: anatomy and physiology, studies on body, several organs or systems
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Zusammenfassung:	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.
ISSN:	8756-3282 1873-2763
DOI:	10.1016/j.bone.2012.10.027