Junctional Epidermolysis Bullosa (JEB, LAMA3-related) – Australian Cattle Dog
Kodas: H718
Short description
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
General information
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. This variant of the disease, LAMA3-related Junctional Epidermolysis Bullosa, is caused by a recessive mutation to the gene LAMA3. It has been observed in the Australian Cattle Dog (this test) and in the German Pointer.
Specifications
| Breeds | |
|---|---|
| Gene | LAMA3 |
| Chromosome | 7 |
| Mutation | c.8615A>T |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Affected puppies may be stillborn, and survivors present with skin fragility, difficulty breathing, stunted growth and general failure to thrive. Other symptoms include frequent choking while eating or drinking, loss of claws, and ulcers and scarring on e.g. footpads, mouth, abdomen and groin. An affected dog may die within several months, or otherwise be euthanized on humane grounds due to the severity of the symptoms.
References
Pubmed ID: 34250689
Year published: 2021
Omia ID: 1677
Omia variant ID:
Turnaround information
- 10 working days