Congenital Myasthenic Syndrome, CMS

(Muscular dystrophy-dystroglycanopathy, limb-girdle)

 

Gene: COLQ

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 COLQ; c.1190 G>A, exon15

Medical system: Neurological, muscular, neuromuscular

Breeds: Devon Rex, Elf, Sphynx

Age of onset of symptoms: 3 months

Congenital Myasthenic Syndrome (CMS) is a neuromuscular disease found in the Sphynx, Devon Rex and associated breeds of cats.  A mutation in the COLQ gene leads to a problem with signal transmission at the level of the neuromuscular junction.  Clinically, this results in muscle weakness and general fatigue, reduced activity, a peculiar gait with protruding shoulder blades, megaesophagus and difficulty swallowing food.  Signs are first seen by 3 months of age and are progressive.  The quality of life and prognosis of affected animals is poor.

 

References:

OMIA link: [1621-9685]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Shelton GD. (2016) Myasthenia gravis and congenital myasthenic syndromes in dogs and cats: A history and mini-review. Neuromuscul Disord. 26(6):331-4. [pubmed/27080328]

Abitbol M, Hitte C, Bossé P, et al. (2015) A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.  PLoS One. 10(9):e0137019. [pubmed/26327126]

Gandolfi B, Grahn RA, Creighton EK, et al. (2015) COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet. 46(6):711-5. [pubmed/26374066]

Malik R, Mepstead K, Yang F, Harper C. (1993) Hereditary myopathy of Devon rex cats.  JSAP 34(11):539-545.