Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

doi:10.1038/s41436-019-0599-6

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2020

Delbaere Sarah, Dhooge Tibbe, Syx Delfien, Petit Florence, Goemans Nathalie, Destrée Anne, Vanakker Olivier, De Rycke Riet, Symoens Sofie, Malfait Fransiska

Abstract excerpt

PURPOSE: To date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome (EDS). The small number of reported patients limits thorough investigation of this newly identified syndrome, currently coined as myopathic EDS. METHODS: DNA from 78 genetically unresolved patients fulfilling...

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

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