Laryngeal Paralysis and polyneuropathy (LPPN3, CNTNAP1-related)
Kodas: H693
Short description
Laryngeal Paralysis with Polyneuropathy (LPPN3) is a neural disorder which causes an altered voice, difficulty swallowing and loss of coordination.
General information
Laryngeal Paralysis with Polyneuropathy (LPPN3) is a neural disorder which causes an altered voice, difficulty swallowing and loss of coordination. This variant has been observed in the Labrador Retriever, Leonberger and Saint Bernard, and is caused by a recessive mutation to the gene CNTNAP1.
Specifications
| Breeds | Pyrenean Shepherd, Great Dane, Labrador Retriever, Leonberger, Saint Bernard |
|---|---|
| Gene | CNTNAP1 |
| Chromosome | 9 |
| Mutation | c.2810G>A |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The main symptom of LPPN is difficult, noisy or raspy breathing. Other signs can include altered barking, difficulty swallowing, uncoordinated walking, stumbling or tripping and atrophy of the limb muscles.
References
Pubmed ID: 33261176
Year published: 2020
Omia ID: 2301
Omia variant ID:
Turnaround information
- 10 working days