Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review

ABSTRACT Background Alport syndrome involves chronic progressive kidney failure and extrarenal organ damage caused by COL4A3, COL4A4, and COL4A5 mutations. Methods We initially discerned a COL4A3 splicing mutation via next‐generation sequencing. Next, we used bioinformatics, renal biopsy pathology,...

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Bibliographic Details
Main Authors: Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alport syndrome (AS)
COL4A3
Minigene assay
splicing mutation
type IV collagen
Online Access:https://doi.org/10.1002/mgg3.70053

Internet

https://doi.org/10.1002/mgg3.70053

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