English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/123855
Título

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

AutorCaparrós-Martín, José A. ; Valencia, María ; Pulido, Veronica; Ruiz-Pérez, Victor L. ; Temtamy, Samia; Aglan, Mona
Fecha de publicación2013
EditorWiley-Liss
CitaciónAmerican Journal of Medical Genetics Part A 161(6): 1354-1369 (2013)
ResumenAutosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR-OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With the exception of a FKBP10 mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested.
Descripciónet al.
URIhttp://hdl.handle.net/10261/123855
DOI10.1002/ajmg.a.35938
Identificadoresdoi: 10.1002/ajmg.a.35938
issn: 1552-4825
e-issn: 1552-4833
Aparece en las colecciones: (IIBM) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
accesoRestringido.pdf15,38 kBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 

Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.