Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome

A 10-month-old female Maine Coon cat with suspected classical Ehlers–Danlos syndrome (cEDS) was investigated due to complications in wound healing. Clinical examination revealed hyperextensible skin, alopecia, and scarring. Histopathological analysis showed reduced dermal thickness and irregular collagen fibers. Whole-genome sequencing identified a heterozygous deletion in the COL5A1 gene, spanning 33,740 base pairs and including the last two exons, which was absent in 87 control genomes. This deletion likely disrupts the function of the collagen type V α-1 subunit, confirming the cEDS diagnosis. The study underscores the utility of whole-genome sequencing in veterinary diagnostics.