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Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.

Molecular genetics & genomic medicine - 1 May 2021

Ma Na, Zhu Zhenhua, Liu Jing, Peng Ying, Zhao Xiaomeng, Tang Weiling, Jia Zhengjun, Xi Hui, Gao Bodi, Wang Hua, Du Juan

Abstract excerpt

BACKGROUND: Classical Ehlers-Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date represent structural mutations, including missense or in-frame exon-skipping splice mutations. The only reported synonymous mutation was expected to affect on splicing of exon 29 by prediction...

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Identifiers

PMID: 33834621
DOI: 10.1002/mgg3.1632
PMCID: PMC8172199

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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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