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

• Main Authors: Eva Pauline Macheroux (Author), Matthias C. Braunisch (Author), Stephanie Pucci Pegler (Author), Robin Satanovskij (Author), Korbinian M. Riedhammer (Author), Roman Günthner (Author), Oliver Gross (Author), Mato Nagel (Author), Lutz Renders (Author), Julia Hoefele (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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>...