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Ehlers-Danlos syndrome (EDS) Type I is most likely caused by a mutation in the COL5A1 gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D4 |
| Mutation | c.3420delG |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | cEDS |
Informations générales
Ehlers-Danlos syndrome (EDS) Type I 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.
Caractéristiques cliniques
Cats with Ehlers-Danlos syndrome (EDS) Type 1 show loose and stretchy skin that is very fragile, poor 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
Références
Pubmed ID: 30246406
Year published: 2018
Omia ID: 2165
Omia variant ID: 1025