Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Massella, L.
Right arrow Articles by De Marchi, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Massella, L.
Right arrow Articles by De Marchi, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Nephrol Dial Transplant (1994) 9: 1408-1411
© 1994 European Renal Association-European Dialysis and Transplant Association

research-article

De-novo COL4A5 gene mutations in Alport's syndrome

L. Massella1, G. Rizzoni3, R. De Blasis3, P. Barsotti3, T. Faraggiana2, A. Renieri2, M. Seri2, L. Galli2, and M. De Marchi

1Bambino Gesù Children's Hospital, National Medical Research Institute Rome 2Medical Genetics, Department of Molecular Biology, University of Siena 3Department of Pathology, University ‘La Sapienza’ Rome, Italy

Correspondence and offprint requests to: Correspondence and offprint requests to: Gianfranco Rizzoni MD, Nephrology and Dialysis Department, Bambino Gesù Children's Hospital, National Medical Research Institute, Piazza S. Onofrio 4, 00165 Roma, Italy

Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome. Here we describe two de-novo mutations in two unrelated children, a male and a female, both with early onset of the nephropathy, but with only one of the diagnostic criteria, i.e. electron- microscopy alterations. Because of the significant estimated proportion of de-novo mutations this diagnosis should be considered in children with early signs of nephropathy, even without a suggestive family history or clinical picture (ocular or audiologic abnormal ities). In the future the diagnosis of Alport syndrome will probably be made on the basis of both clinical findings and molecular analysis. Now Alport syndrome is clearly underdiagnosed.

Keywords: Alport syndrome; hereditary nephritis


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nephrol Dial TransplantHome page
O. Gross, K.-O. Netzer, R. Lambrecht, S. Seibold, and M. Weber
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling
Nephrol. Dial. Transplant., July 1, 2002; 17(7): 1218 - 1227.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.