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Congenital Hypomyelinating Polyneuropathy (HPN) is a hereditary neurological disorder that primarily affects the peripheral nervous system.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 4 |
| Mutation | c.1924C>T |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | HPN |
Información específica de la prueba
Congenital Hypomyelinating Polyneuropathy (HPN) is a hereditary neurological disorder that primarily affects the peripheral nervous system. It is the canine variant of Charcot-Marie-Tooth Syndrome occurring in humans. It is characterized by abnormal development or insufficient formation of myelin sheet, which is a protective covering around nerve fibers. Myelin is essential for the proper transmission of nerve signals, and without it, nerve function is impaired.
In Golden Retrievers there are currently three mutations found in different genes that cause HPN. The mutation tested for here is found in the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene located in exon 11. It is probably inherited in an autosomal recessive way.
The other variants involve mutations in the myotubulin-related protein 2 (MTMR2) gene and the myelin protein zero (MPZ) gene. These variants are analysed in different tests.
Características clínicas
All three mutations (MTMR2, MPZ, SH3TC2) lead to similar symptoms: muscle weakness, ataxia, tremors, hypotonia (low muscle tone), and delayed motor development. The severity and progression of these symptoms can vary. For example, MPZ mutations may lead to more severe muscle wasting or atrophy over time, while SH3TC2 and MTMR2 mutations tend to primarily cause weakness and coordination problems without significant muscle wasting.
SH3TC2 mutations typically lead to symptoms manifesting between 2 to 6 months of age, with some affected puppies showing signs earlier, around 8 weeks of age.
Información adicional
Referencias
Pubmed ID: 37400349
Year published: 2023
Omia ID: 2740
Omia variant ID: