X-linked Alport Syndrome

Philippe Jaïs, Jean; Knebelmann, Bertrand; Giatras, Iannis; Marchi, Mario; Rizzoni, Gianfranco; Renieri, Alessandra; Weber, Manfred; Groß, Oliver; Netzer, Kai‐Olaf; Flinter, Frances; Pirson, Yves; Verellen, Christine; Wieslander, Jörgen; Persson, Ulf; Tryggvason, Karl; Martin, Paula; Michael Hertz, Jens; H. Schröder, Cornelis; Sanak, Marek; Krejcová, S; Fernanda Carvalho de Camargo, Maria; Saus, Juan; Antignac, Corinne; J.M. Smeets, Hubert; Gübler, Marie-Claire

doi:10.1681/asn.v114649

Public

X-linked Alport Syndrome

Published in Journal of the American Society of Nephrology • Apr 1, 2000

Authors:

Jean Philippe Jaïs

Bertrand Knebelmann

Iannis Giatras

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. Considera...

Subject

Missense mutation

Alport syndrome

Nonsense mutation

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