English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/77054
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:


Identification of a frameshift mutation in osterix in a patient with recessive osteogenesis imperfecta

AuthorsCaparrós-Martín, José A. ; Valencia, María ; Letón, Rocío; Ruiz-Pérez, Victor L.
Issue Date2010
CitationAmerican Journal of Human Genetics 87(1): 110-114 (2010)
AbstractOsteogenesis imperfecta, or "brittle bone disease", is a type collagen-related condition associated with osteoporosis and increased risk of bone fractures. Using a combination of homozygosity mapping and candidate gene approach, we have identified a homozygous single base pair deletion (c.1052delA) in SP7/Osterix (OSX) in an Egyptian child with recessive osteogenesis imperfecta. The clinical findings from this patient include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing, and white sclera. OSX encodes a transcription factor containing three Cys2-His2 zinc-finger DNA-binding domains at its C terminus, which, in mice, has been shown to be essential for bone formation. The frameshift caused by the c.1052delA deletion removes the last 81 amino acids of the protein, including the third zinc-finger motif. This finding adds another locus to the spectrum of genes associated with osteogenesis imperfecta and reveals that SP7/OSX also plays a key role in human bone development.
Identifiersdoi: 10.1016/j.ajhg.2010.05.016
issn: 0002-9297
e-issn: 1537-6605
Appears in Collections:(IIBM) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.