Effect of the unreported COL5A2 variant c.2499 + 4_2499 + 5insTAA on RNA splicing: Insights from minigene assays.

Clin Chim ActaAug 13, 2026 (epub)
Case ReportMedical Genetics

Zhongying Zhao, Lianrui Tang, Jing Zhu et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Classical Ehlers-Danlos syndrome (cEDS), caused by pathogenic variants in COL5A2, is characterized by skin hyperextensibility, joint hypermobility and atrophic scarring. This study aimed to identify and validate the pathogenicity of an unreported COL5A2 intronic variant in a Chinese family with cEDS.

Reported results

A de novo COL5A2 (NM_000393.3) c.2499 + 4_2499 + 5insTAA variant was identified. Minigene assays demonstrated that this variant induced exon 37 skipping, resulting in an in-frame deletion. Based on ACMG guidelines, the variant was classified as pathogenic and considered the likely underlying etiology of cEDS in this family.

Authors' conclusions

These findings expand the variant spectrum of COL5A2, improving molecular diagnosis of cEDS.

Source

PubMed · PMID 42594983

Published in Clin Chim Acta. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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