Universität zu Köln

Marini, Joan C., Forlino, Antonella, Bachinger, Hans Peter, Bishop, Nick J., Byers, Peter H., De Paepe, Anne, Fassier, Francois, Fratzl-Zelman, Nadja ORCID: 0000-0003-1164-1877, Kozloff, Kenneth M., Krakow, Deborah, Montpetit, Kathleen and Semler, Oliver (2017). Osteogenesis imperfecta. Nat. Rev. Dis. Primers, 3. LONDON: NATURE PUBLISHING GROUP. ISSN 2056-676X

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Abstract

Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Marini, Joan C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Forlino, Antonella UNSPECIFIED UNSPECIFIED UNSPECIFIED Bachinger, Hans Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Bishop, Nick J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Byers, Peter H. UNSPECIFIED UNSPECIFIED UNSPECIFIED De Paepe, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Fassier, Francois UNSPECIFIED UNSPECIFIED UNSPECIFIED Fratzl-Zelman, Nadja UNSPECIFIED orcid.org/0000-0003-1164-1877 UNSPECIFIED Kozloff, Kenneth M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Krakow, Deborah UNSPECIFIED UNSPECIFIED UNSPECIFIED Montpetit, Kathleen UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-221679
DOI:	10.1038/nrdp.2017.52
Journal or Publication Title:	Nat. Rev. Dis. Primers
Volume:	3
Date:	2017
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2056-676X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language QUALITY-OF-LIFE; BONE MORPHOGENETIC PROTEIN-1; EHLERS-DANLOS-SYNDROME; INTRAVENOUS PAMIDRONATE THERAPY; GROWTH-FACTOR-BETA; MOUSE MODEL; I COLLAGEN; ENDOPLASMIC-RETICULUM; BRUCK-SYNDROME; SCLEROSTIN ANTIBODY Multiple languages Medicine, General & Internal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22167