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Ichthyosis (also known as epidermolytic ichthyosis and lamellar ichthyosis) is a hereditary skin disorder, in Jack Russell Terriers and related breeds it is caused by an autosomal recessive mutation in the transglutaminase 1 (TGM1) gene.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | Autosómico recesivo |
| Chromosome | 8 |
| Mutation | a LINE-1 insertion in the TGM1 gene |
Información específica de la prueba
Ichthyosis (also known as epidermolytic ichthyosis and lamellar ichthyosis) is a hereditary skin disorder, in Jack Russell Terriers and related breeds it is caused by an autosomal recessive mutation in the transglutaminase 1 (TGM1) gene. This gene encodes an enzyme that is essential for the formation of the skin barrier, as it helps bind structural proteins and lipids in the outer layer of the skin. The mutation leads to a loss or reduction of enzyme activity, resulting in an impaired skin barrier. Affected dogs typically develop signs early in life, which may include abnormalities of the skin and coat such as dryness, scaling, or altered texture. Although the condition is not life-threatening, it can cause chronic skin irritation and secondary infection, and requires ongoing management to maintain skin health.
Características clínicas
Clinical signs of ichthyosis include dry, scaly skin, excessive dandruff (flaking), and a rough or dull coat texture. The skin may appear thickened or greasy, particularly on the abdomen, inner thighs, and along the back. In some cases, mild itching or secondary skin infections may occur due to the compromised skin barrier. Symptoms are usually visible from a young age (4-8 weeks), and tend to persist throughout life, though the severity can vary between individuals.
Información adicional
Referencias
Pubmed ID: 19438474
Year published: 2009
Omia ID: 546
Omia variant ID: 706