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Article

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.

Nature communications - 23 Mar 2026

Di Hongling, You Zhen, Wang Ling, Sun QingRong, Zhang Jiahui, Lv Qi, Wang Pei, Lai Ze, Wang Gang, Zheng Chunxia, Gong Liang, Liu Zhihong

Abstract excerpt

Alport syndrome (AS) is a prevalent inherited kidney disorder mainly caused by mutations in COL4A3, COL4A4, and COL4A5 genes. To elucidate the genetic variants of AS, we implemented a sequential sequencing strategy within a Chinese cohort of 555 patients, comprising whole-exome sequencing (WES) for all participants, followed by whole-genome sequencing (WGS), RNA sequencing (RNA-seq), and nanopore long-read...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41872207
DOI: 10.1038/s41467-026-70936-9
PMCID: PMC13171879

Genes

COL4A3
COL4A4
COL4A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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