Identification of novel COL4A5 variants and prenatal diagnosis in three large families

Identification of novel COL4A5 variants and prenatal diagnosis in three large families

Abstract Alport syndrome (AS) is the second-most frequent monogenic kidney disease and 85% of cases are caused by mutations in the genes of the α5 chains of collagen type IV (COL4A5). The early diagnosis and treatment are essential for the prognosis of AS. The clinical phenotypes of AS are very vari...

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Bibliographic Details
Main Authors: Baitao Zeng, Yao Yu, Cong Liu, Xinyu Li, Qing Lu, Zhongfa Chen, Jia Chen, Jun Zou, Bicheng Yang, Yanqiu Liu, Yongyi Zou
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:Scientific Reports
Subjects:
COL4A5
Alport syndrome
Aberrant splicing
Preimplantation genetic testing
Prenatal diagnosis
Online Access:https://doi.org/10.1038/s41598-025-92649-7
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