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Ehlers-Danlos syndrome (EDS) is most likely caused by a mutation in the COL5A1 gene.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Ehlers-Danlos syndrome (EDS) is most likely caused by a mutation in the COL5A1 gene. This results in defective collagen synthesis or impaired assembly of the collagen structure. Collagen is the main component of connective tissue, and it is the most abundant protein in mammals. It is mostly found in tendons, ligaments, and skin, but also in bones, blood vessels and many other tissues.

Clinical features

Cats with Ehlers-Danlos syndrome (EDS) show skin hyperextensibility, pour wound healing and abnormal scarring. Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Additional information

References

Pubmed ID: 30246406

Omia ID: 2165

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3. Results

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