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Title:

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

Document type:
Case Reports
Author(s):
Macheroux, Eva Pauline; Braunisch, Matthias C; Pucci Pegler, Stephanie; Satanovskij, Robin; Riedhammer, Korbinian M; Günthner, Roman; Gross, Oliver; Nagel, Mato; Renders, Lutz; Hoefele, Julia
Abstract:
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>A, p.(Gly624Asp) in COL4A5 is described in the literature as a hypomorphic variant associated with thin basement membrane nephropathy (TBMN). ESRD was only seen rarely at a median age of 50 years and ext...     »
Journal title abbreviation:
Front Pediatr
Year:
2019
Journal volume:
7
Fulltext / DOI:
doi:10.3389/fped.2019.00485
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/31850286
TUM Institution:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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