The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome

Background: Alport syndrome (AS) is a progressive kidney disorder leading to end stage renal disease (ESRD). Extrarenal symptoms like hearing loss and ocular changes can be observed. Approximately 85% of the patients carry pathogenic variants in COL4A5 (X-linked inheritance). The variant c.1871G&...

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Bibliographic Details
Main Authors: Eva Pauline Macheroux, Matthias C. Braunisch, Stephanie Pucci Pegler, Robin Satanovskij, Korbinian M. Riedhammer, Roman Günthner, Oliver Gross, Mato Nagel, Lutz Renders, Julia Hoefele
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Pediatrics
Subjects:
Alport syndrome
COL4A5
p.Gly624Asp
ESRD
hearing impairment
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00485/full

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https://www.frontiersin.org/article/10.3389/fped.2019.00485/full

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