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Craniomandibular Osteopathy (Terrier Type)

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Test Overview:

Avoid Breeding Affected Dogs: Dogs diagnosed with craniomandibular osteopathy (CMO) should not be bred, even if clinical signs have resolved. Avoid Breeding Close Relatives of Affected Dogs: Parents, siblings, and progeny of affected dogs are likely carriers or at risk; they should be excluded from breeding or bred with caution. Genetic Testing: Where available, test breeding dogs for known mutations associated with CMO, such as the SLC37A2 gene mutation identified in some terrier breeds (West Highland White Terrier, Cairn Terrier, Scottish Terrier, Fox Terrier). Do Not Breed Known Carriers Together: Breeding two carriers can produce affected offspring, so carriers should only be bred to genetically clear dogs. Consider Incomplete Dominance: Some evidence suggests incomplete dominance for certain CMO-associated mutations, meaning heterozygous dogs may have milder signs, so breeding decisions must consider this for risk management. Maintain Genetic Diversity: Use genetic testing data combined with pedigree analysis to minimize disease risk while preserving breed diversity and avoiding genetic bottlenecks. Education and Communication: Breeders should share information openly about CMO status to allow informed breeding decisions and reduce disease prevalence over generations.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

SLC37A2

Variant Detected:

chr5:9387327 (canFam3): C>T

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

Genetic testing of the SLC37A2 gene will reliably determine if a dog is a genetic carrier of craniomandibular osteopathy.

Research Citation(s):

Hytonen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drogemuller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. [PubMed: 27187611] Padgett GA, Mostosky UV. The mode of inheritance of craniomandibular osteopathy in West Highland White terrier dogs. Am J Med Genet. 1986 Sep;25(1):9-13. [PubMed: 3799725] Shorenstein B, Schwartz P, Kross PH. What is your diagnosis? Craniomandibular osteopathy. J Am Vet Med Assoc. 2014 Sep 1;245(5):491-2. doi: 10.2460/javma.245.5.491. [PubMed: 25148087]

Associated Breed(s):

Australian Shepherd, Cairn Terrier, Mixed Breed, Scottish Terrier , West Highland White Terrier ,

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