Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2000 Apr;11(4):649-657.
doi: 10.1681/ASN.V114649.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males

Jean Philippe Jais  1 , Bertrand Knebelmann  2 , Iannis Giatras  2 , Mario DE Marchi  3 , Gianfranco Rizzoni  3 , Alessandra Renieri  3 , Manfred Weber  4 , Oliver Gross  4 , Kai-Olaf Netzer  4 , Frances Flinter  5 , Yves Pirson  6 , Christine Verellen  6 , Jörgen Wieslander  7 , Ulf Persson  7 , Karl Tryggvason  8 , Paula Martin  8 , Jens Michael Hertz  9 , Cornelis Schröder  10 , Marek Sanak  11 , Sarka Krejcova  12 , Maria Fernanda Carvalho  13 , Juan Saus  14 , Corinne Antignac  2 , Hubert Smeets  15 , Marie Claire Gubler  2
Affiliations

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males

Jean Philippe Jais et al. J Am Soc Nephrol. 2000 Apr.

Abstract

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Action" has been established to delineate accurately the AS phenotype and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of the 401 male patients belonging to the 195 families with COL4A5 mutation are presented. All male patients were hematuric, and the rate of progression to end-stage renal failure and deafness was mutation-dependent. Large deletions, non-sense mutations, or small mutations changing the reading frame conferred to affected male patients a 90% probability of developing end-stage renal failure before 30 yr of age, whereas the same risk was of 50 and 70%, respectively, in patients with missense or splice site mutation. The risk of developing hearing loss before 30 yr of age was approximately 60% in patients with missense mutations, contrary to 90% for the other types of mutations. The natural history of X-linked AS and correlations with COL4A5 mutations have been established in a large cohort of male patients. These data could be used for further evaluation of therapeutic approaches.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources