Cardiac Laminopathy (CLAM) – Nova Scotia Duck Tolling Retriever
Kodas: H296
Short description
Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever.
General information
Cardiac Laminopathy (CLAM), a fatal heritable condition, has been described in the Nova Scotia Duck Tolling Retriever. This variant is caused by a recessive mutation to the gene LMNA. CLAM can result in Dilated Cardiomyopathy (DCM), which is a disorder characterised by enlargement of the heart (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.
Specifications
| Breeds | |
|---|---|
| Gene | LMNA |
| Chromosome | 7 |
| Mutation | c.1726delG |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CLAM; DCM |
Clinical features
Affected dogs can develop DCM within the first year of life. Symptoms of DCM can include lack of appetite, lethargy, and irregular or otherwise abnormal heart rhythm. Affected dogs may ultimately die of sudden heart failure.
References
Pubmed ID: 37925523
Year published: 2023
Omia ID: 2796
Omia variant ID:
Turnaround information
- 10 working days