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Based on in vitro and ex vivo kinetics studies and structure\u2010based modelling, we molecularly characterized \u03b24GalT7 mutants linked to the progeroid form of Ehlers\u2013Danlos syndrome (EDS), a severe connective tissue disorder. Our results revealed that loss of activity upon L206P substitution due to altered protein folding is the primary cause for the GAG synthesis defect in patients carrying the compound A186D and L206P mutations. We showed that R270C substitution strongly reduced \u03b24GalT7 affinity towards xyloside acceptor, thus affecting GAG chains formation. 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