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Article

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

Molecular genetics & genomic medicine - 1 Feb 2024

Zhang Ran, Lang Yanhua, Shi Xiaomeng, Zhang Yiyin, Liu Xuyan, Pan Fengjiao, Qiao Dan, Teng Xin, Shao Leping

Abstract excerpt

BACKGROUND: X-linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre-mRNA by altering various splicing regulatory signals. The male patients with XLAS have a strong genotype-phenotype correlation. Confirming the effect of variants on...

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Identifiers

PMID: 38400605
DOI: 10.1002/mgg3.2395
PMCID: PMC10891438

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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