Centronuclear Myopathy 2, CNM2

(Inherited myopathy of Great Danes)

 

Gene: BIN1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, BIN1 gene; c.786-2 A>G, p.(R262_K263 ins ASASRPFPQ), splicing error, exon 11

Medical system: Muscular

Breeds: Great Dane

Age of onset of symptoms: Around 1 year

Inherited Myopathy is a congenital genetic disease identified in the Great Dane.  It is caused by a mutation in the BIN1 gene, which is normally involved in the differentiation of muscle fibers.  Clinical symptoms include muscle atrophy, tremors, intolerance to exercise, abnormal posture and sometimes difficulty breathing.  Generally, symptoms progress rapidly, and most affected dogs will need to be euthanized before the age of 2.  However, some dogs who show a milder form of the disease will be able to live longer.

 

References:

OMIA link : [1660-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Böhm J, Vasli N, Maurer M, et al. (2013) Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.  PLoS Genetics 9(6):e1003430. [pubmed/23754947]

Chang KC, McCulloch ML, Anderson TJ. (2010) Molecular and cellular insights into a distinct myopathy of Great Dane dogs. Vet J 183:322-7.  [pubmed/19135395]

Feliu-Pascual Lujan A, Shelton GD, Targett MP, et al. (2006) Inherited myopathy of great Danes. J Small Anim Pract. 47(5):249-54. [pubmed/16674719]