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Centronuclear Myopathy Labrador Retriever Type (CNM)
| Acronym: | CNM |
| Gene: | HACD1 (PTPLA) |
| Mutation: | c.203_204ins236bp |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Centronuclear myopathy Labrador Retriever type (CNM) is an inherited congenital disorder characterized by an excessive number of internalized nuclei. This causes insufficient muscle function in Labrador Retrievers. At first, the puppy will seem normal, but with the puppy’s aging, Labrador Retriever Centronuclear myopathy symptoms start to show. Within 2 to 5 months clinical features in pups will include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance, and increased collapse when exposed to cold. On examination, there is evidence of skeletal muscle atrophy, particularly involving muscles of the head and tendinous areflexia. Histopathological evaluation of muscle biopsies shows a characteristic centralization of myonuclei, often located in areas devoid of myofibrils with mitochondrial aggregation. No cure for centronuclear myopathy has been developed and the affected dogs will never develop properly functioning muscle tissue. A dog can live normally, but is limited and affected by symptoms of centronuclear myopathy.
Labrador Retriever Centronuclear myopathy is inherited in a recessive manner, meaning the puppy must carry two copies of the defective gene in order to be affected by the disease. This means that a dog can also be a carrier of the disease, without showing the Centronuclear myopathy symptoms.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Pelé, M., Tiret, L., Kessler, J.-L., Blot, S., and Panthier, J.-J. (2005). SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Human Molecular Genetics 14, 1417–1427.