Lysosomal Storage Disease (LSD) – Dalmatian
Kodas: H272
Short description
Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can't fully break down certain large molecules.
General information
Lysosomal Storage Diseases (LSDs) are genetic disorders where the body can’t fully break down certain large molecules. These molecules build up inside cell structures called lysosomes, causing ongoing damage, especially to the nervous system. In Dalmatian dogs, an autosomal dominant mutation with an incomplete penetrance in the CNP gene is linked to this lysosomal storage disease, resulting in slowly progressing symptoms.
Specifications
| Breeds | |
|---|---|
| Gene | CNP |
| Chromosome | 9 |
| Mutation | c.1107del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Also known as | LSD |
Clinical features
Symptoms in affected Dalmatian dogs include neurological abnormalities (abnormal behaviour, cognitive decline, anxiety), developmental delays, organ enlargement, skeletal and eye abnormalities, and reduced life expectancy. Clinical signs typically manifest around 18 months of age, with neurological abnormalities and brain atrophy observed. Some heterozygous dogs may show milder, later-onset symptoms.
References
Pubmed ID: 35447247
Year published: 2022
Omia ID: 2591
Omia variant ID:
Turnaround information
- 10 working days