The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report

BackgroundAlport syndrome is an inherited glomerular disease that leads to progressive kidney failure, hearing loss, and eye problems. Diagnosis mostly relies on tests of tissue pathology and genetic analysis. This study aims to clarify the role of the COL4A4 c.817-1G > A mutation in Alport s...

Full description

Saved in:
Bibliographic Details
Main Authors: Dayan Wang, Xiaobing Li, Kaichao Cheng, Lanjin Zheng, Pengfei Yu, Panjian Lai
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Pediatrics
Subjects:
COL4A4
RNA-seq analysis
aberrant splicing
Alport syndrome
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1533638/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items