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Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. Two autosomal recessive mutations are found in the tenascin XB (TNXB) gene, leading to a specific subtype of EDS known as Classical-like Ehlers-Danlos Syndrome (clEDS). The TNXB gene is an important component of the extracellular matrix (ECM). The ECM provides structural support in connective tissues like skin, tendons, ligaments, and blood vessels.
The variant 2 mutation (c.2900) tested for here has been found in the poodle and chihuahua populations. The related variant 1 mutation (c.2012) has also been found in a dog with mixed poodle and chihuahua.
Características clínicas
Affected dogs show hyperelastic skin, joint hypermobility and fragile skin that bruises and tears easily. This can lead to muscle weakness from joint instability and chronic pain. The fragile skin causes delayed wound healing and abnormal scar formation. The lifespan of animals with TNXB mutations (related to clEDS) may not necessarily be significantly shorter unless there are severe complications related to joint instability, skin fragility, or other systemic issues.
Información adicional
Referencias
Pubmed ID: 31365140
Omia ID: 2203