Case Report: Whole genome sequencing identifies a novel deep intronic COL4A5 variant of uncertain significance in X-linked Alport syndrome

Diagnosing Alport syndrome can be particularly challenging when targeted sequencing methods, such as panel-based next-generation sequencing (NGS), fail to identify pathogenic variants, especially deep intronic mutations. The syndrome is caused by mutations in type IV collagen genes (COL4A3, COL4A4,...

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Главные авторы:	Hoon Seok Kim, Myungshin Kim, Jin-Soon Suh, Yeonhee Lee
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2025-08-01
Серии:	Frontiers in Pediatrics
Предметы:	alport syndrome COL4A5 deep intronic variant whole genome sequencing pediatric nephrology
Online-ссылка:	https://www.frontiersin.org/articles/10.3389/fped.2025.1639471/full
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