Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

Abstract Background Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end‐stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X‐linked in the majority of families and caus...

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Bibliographic Details
Main Authors: Ole Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, Mads Thomassen, Jens Michael Hertz
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome
COL4A5
de novo mutation
mosaicism
Online Access:https://doi.org/10.1002/mgg3.1452

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