English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/135672
Share/Impact:
Statistics
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 | DATACITE
Exportar a otros formatos:

Title

A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers

AuthorsRosado, Consolación; Bueno, Elena; Bueno, Elena; García-Cosmes, Pedro; González-Sarmiento, Rogelio
KeywordsAutosomal dominant
COL4A3 gene
Lenticonus
Alport syndrome
Issue Date2015
PublisherElsevier
CitationEuropean Journal of Medical Genetics 58(1): 35-38 (2015)
AbstractBilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease. This mutation is also present in a patient with anterior lenticonus, an observation only found in families with recessive and sex-linked Alport disease.
URIhttp://hdl.handle.net/10261/135672
DOI10.1016/j.ejmg.2014.10.003
Identifiersdoi: 10.1016/j.ejmg.2014.10.003
e-issn: 1878-0849
issn: 1769-7212
Appears in Collections:(IBMCC) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
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.