Junctional Epidermolysis Bullosa (JEB, LAMB3-related) – Australian Shepherd
Kodas: H778
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. Euthanasia is often required for affected dogs. This variant of the disorder, known as Junctional Epidermolysis Bullosa (JEB), is found in the Australian Shepherd. It is caused by a recessive mutation to the gene LAMB3.
Specifications
| Breeds | |
|---|---|
| Gene | LAMB3 |
| Chromosome | 7 |
| Mutation | c.1174T>C |
| Organ | Digestive System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | JEB |
Clinical features
Affected puppies manifest within the first few months of life with reduced growth, as well as ulcers in the mouth, throat and ears. Further ulcers may also develop on the abdomen, joints and paw pads. These lesions are typically severe, and affected dogs are generally euthanized on humane grounds within the first six months of life.
References
Pubmed ID: 32906717
Year published: 2020
Omia ID: 2269
Omia variant ID:
Turnaround information
- 10 working days