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Article

A novel deep intronic COL5A1 variant in an Ehlers-Danlos syndrome family: functional characterization by minigene assay.

Scientific reports - 31 Mar 2026

Zhao Jie, Feng Jingjing

Abstract excerpt

This study aimed to identify the genetic cause of Ehlers-Danlos syndrome (EDS) in a Chinese family and to evaluate the functional impact of a deep intronic COL5A1 variant using a minigene assay. The genetic analysis was performed using medical whole-exome sequencing, covering 5,398 genes associated with human genetic diseases. A candidate variant was prioritized based on its segregation and potential effect on...

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Identifiers

PMID: 41917426
DOI: 10.1038/s41598-026-46346-8
PMCID: PMC13181039

Genes

COL5A1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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