Journal of the American Society of Nephrology
2007 JASN IMPACT FACTOR 7.111 HOME   AUTHOR INFO   EDITORIAL BOARD   SUBSCRIBE   FEEDBACK   ALERTS   HELP 
    advanced
CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION


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
Right arrow Citation Map
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 Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Ding, J.
Right arrow Articles by Kashtan, C. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ding, J.
Right arrow Articles by Kashtan, C. E.

Journal of the American Society of Nephrology, Vol 5, 161-168, Copyright © 1994 by American Society of Nephrology

REGULAR ARTICLES

COL4A5 deletions in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis

J Ding, J Zhou, K Tryggvason and CE Kashtan
Department of Pediatrics, University of Minnesota, Minneapolis.

Mutations in the COL4A5 gene encoding the alpha 5 chain of Type IV collagen were identified in three men with Alport syndrome and posttransplant antiglomerular basement membrane (GBM) nephritis by the use of Southern analysis, polymerase chain reaction amplification of genomic DNA, and reverse transcription and amplification of lymphocyte RNA. Two related patients (M.C. and J.M.) exhibited deletion of COL4A5 beginning in the 5'-most portion of the gene and extending through the 3' untranslated region, whereas the third patient (J.E.) had an intragenic deletion encompassing Exons 4 through 47. Combined with previously reported data, these findings suggest that the incidence of deletions of COL4A5, as opposed to other COL4A5 mutations, is much higher in Alport patients who develop posttransplant anti-GBM nephritis than in the general Alport population. Immunofluorescence studies of kidney from Patient J.E. showed no reactivity of GBM with monoclonal antibodies directed against the alpha 3, alpha 4, and alpha 5 chains of Type IV collagen. This finding confirms that the mutation affecting the alpha 5(IV) chain can interfere with the incorporation of alpha 3(IV) and alpha 4(IV) into the GBM.


This article has been cited by other articles:


Home page
 J. Am. Soc. Nephrol.Home page
X.-P. Wang, A. B. Fogo, S. Colon, G. Giannico, S. R. Abul-Ezz, J. H. Miner, and D.-B. Borza
Distinct Epitopes for Anti-Glomerular Basement Membrane Alport Alloantibodies and Goodpasture Autoantibodies within the Noncollagenous Domain of {alpha}3(IV) Collagen: A Janus-Faced Antigen
J. Am. Soc. Nephrol., December 1, 2005; 16(12): 3563 - 3571.
[Abstract] [Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
C. Kashtan
Autotopes and Allotopes
J. Am. Soc. Nephrol., December 1, 2005; 16(12): 3455 - 3457.
[Full Text] [PDF]

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]

Home page
 J. Med. Genet.Home page
I Meloni, F Vitelli, L Pucci, R B Lowry, R Tonlorenzi, E Rossi, M Ventura, G Rizzoni, C E Kashtan, B Pober, et al.
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
J. Med. Genet., May 1, 2002; 39(5): 359 - 365.
[Full Text] [PDF]

Home page
 J. Am. Soc. Nephrol.Home page
D. C. KLUTH and A. J. REES
Anti-Glomerular Basement Membrane Disease
J. Am. Soc. Nephrol., November 1, 1999; 10(11): 2446 - 2453.
[Full Text]


HOME CURRENT ISSUE ARCHIVES JASN Express ONLINE SUBMISSION AUTHOR INFO
EDITORIAL BOARD SUBSCRIBE FEEDBACK ALERTS HELP

Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673