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Article

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

PloS one - 1 Jan 2011

Symoens Sofie, Malfait Fransiska, Vlummens Philip, Hermanns-Lê Trinh, Syx Delfien, De Paepe Anne

Abstract excerpt

BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2). Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein....

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Identifiers

PMID: 21611149
DOI: 10.1371/journal.pone.0020121
PMCID: PMC3096658

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Source receipt: pubmed, retrieved 7 Sept 2026.

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