In the current study, we report a novel COL5A1 acceptor-splice site mutation in intron 6 (IVS6-2A>G, NM_000093.3_c.925-2A>G) that affects splicing of exon 7 and the upstream exon 6 and causes an EDS phenotype, characterized by mild cutaneous involvement, eye involvement and severe progressive kyphoscoliosis. This evidence concerns the gene COL5A1 and Ehlers-Danlos syndrome.