OMIA 000236-9615 : Craniomandibular osteopathy in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 114000

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific symbol: CMO

Inheritance: Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed.

Vagt and Distl (2108) reported evidence for multifactorial inheritance of this disorder in the Deutsch Drahthaar breed.

Molecular basis: In December 2012, investigators from the Institute of Genetics at the University of Bern announced they had discovered a causal mutation for this disorder, and began offering a DNA test for it (See Genetic Testing section): a pdf describing their discovery is available from http://www.genetics.unibe.ch/unibe/vetmed/genetic/content/e2885/e3121/e186705/files186706/Interpretation_CMO_Gentest_e_eng.pdf. Thanks to Lotte Kirkegaard and Frank Coopman for bringing this to the attention of FN. As soon as the results are published, they will be included in this entry.

Hytönen et al. (2016): the likely causal mutation in West Highland White Terriers, Cairn Terriers and Scottish Terriers is a splicing variant "c.1332C>T in exon 15 of SLC37A2 . . . The mutant T allele eliminates a potential binding site for the splicing factor ASF/SF-2".

Genetic testing: From 1st December 2012, a DNA test for this disorder has been available from http://www.genetics.unibe.ch/content/service/dog/index_eng.html.

Breeds: Cairn Terrier, Scottish Terrier, West Highland White terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 Canis lupus familiaris 5 NC_006587.3 (9407631..9384368) SLC37A2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cairn Terrier Scottish Terrier West Highland White terrier Craniomandibular osteopathy SLC37A2 splicing CanFam3.1 9 g.9387327 c.1332C>T 2016 27187611 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Vagt, J., Distl, O. :
Complex segregation analysis of craniomandibular osteopathy in Deutsch Drahthaar dogs. Vet J 231:30-32, 2018. Pubmed reference: 29429484. DOI: 10.1016/j.tvjl.2017.11.008.
2016 Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. :
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.
Hytönen, M.K., Lohi, H. :
Canine models of human rare disorders. Rare Dis 4:e1241362, 2016. Pubmed reference: 27803843. DOI: 10.1080/21675511.2016.1241362.
2012 Pettitt, R., Fox, R., Comerford, E.J., Newitt, A. :
Bilateral angular carpal deformity in a dog with craniomandibular osteopathy. Vet Comp Orthop Traumatol 25:149-54, 2012. Pubmed reference: 22366888. DOI: 10.3415/VCOT-11-02-0022.
2011 Thompson, D.J., Rogers, W., Owen, M.C., Thompson, K.G. :
Idiopathic canine juvenile cranial hyperostosis in a Pit Bull Terrier. N Z Vet J 59:201-5, 2011. Pubmed reference: 21660851. DOI: 10.1080/00480169.2011.579556.
2010 Ratterree, W.O., Glassman, M.M., Driskell, E.A., Havig, M.E. :
Craniomandibular osteopathy with a unique neurological manifestation in a young Akita. J Am Anim Hosp Assoc 47:e7-12, 2010. Pubmed reference: 21189419. DOI: 10.5326/JAAHA-MS-5464.
2002 Huchkowsky, S.L. :
Craniomandibular osteopathy in a bullmastiff. Can Vet J 43:883-5, 2002. Pubmed reference: 12497967.
LaFond, E., Breur, G.J., Austin, C.C. :
Breed susceptibility for developmental orthopedic diseases in dogs Journal of the American Animal Hospital Association 38:467-477, 2002. Pubmed reference: 12220032.
1998 Franch, J., Cesari, J.R., Font, J. :
Craniomandibular osteopathy in two Pyrenean mountain dogs Veterinary Record 142:455-459, 1998. Pubmed reference: 9602514.
1995 Taylor, S.M., Remedios, A., Myers, S. :
Craniomandibular osteopathy in a Shetland sheepdog. Can Vet J 36:437-9, 1995. Pubmed reference: 7585421.
Watson, A.D.J., Adams, W.M., Thomas, C.B. :
Craniomandibular osteopathy in dogs Compendium on Continuing Education for the Practicing Veterinarian 17:911, 1995.
1994 Hudson, J.A., Montgomery, R.D., Hathcock, J.T., Jarboe, J.M. :
Computed Tomography of Craniomandibular Osteopathy in a Dog Veterinary Radiology & Ultrasound 35:94-99, 1994.
1992 Lindt, F., Gagnebin, L. :
[What is your diagnosis? Craniomandibular osteopathy]. Schweiz Arch Tierheilkd 134:49-51, 1992. Pubmed reference: 1553519.
1986 Gutteling, J., Hazewinkel, H.A. :
[Hyperostosis of the mandibles in a West Highland white terrier]. Tijdschr Diergeneeskd 111:1246-8, 1986. Pubmed reference: 3824324.
Padgett, G.A., Mostosky, U.V. :
The mode of inheritance of craniomandibular osteopathy in West Highland White terrier dogs. Am J Med Genet 25:9-13, 1986. Pubmed reference: 3799725. DOI: 10.1002/ajmg.1320250103.
1983 Alexander, J.W. :
Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. Vet Clin North Am Small Anim Pract 13:55-70, 1983. Pubmed reference: 6346655.
1982 Hathcock, J.T. :
Craniomandibular osteopathy in an English Bulldog--. J Am Vet Med Assoc 181:389, 1982. Pubmed reference: 7118716.
1979 Thornburg, L.P. :
Infantile cortical hyperostosis (Caffey-Silverman syndrome). Animal model: craniomandibular osteopathy in the canine. Am J Pathol 95:575-8, 1979. Pubmed reference: 377993.
1978 Schulz, S. :
A case of craniomandibular osteopathy in a Boxer. J Small Anim Pract 19:749-57, 1978. Pubmed reference: 723240.
1976 Burk, R.L., Broadhurst, J.J. :
Craniomandibular osteopathy in a Great Dane. J Am Vet Med Assoc 169:635-6, 1976. Pubmed reference: 965287.
1975 Keppler, A., Boom, J. :
[What is your diagnosis]. Tijdschr Diergeneeskd 100:563-5, 1975. Pubmed reference: 1154348.
Watson, A.D., Huxtable, C.R., Farrow, B.R. :
Craniomandibular osteopathy in Doberman Pinschers. J Small Anim Pract 16:11-9, 1975. Pubmed reference: 1117702.
1969 Battershell, D. :
Craniomandibular osteopathy. J Am Vet Med Assoc 155:1735-6, 1969. Pubmed reference: 5391227.
Pool, R.R., Leighton, R.L. :
Craniomandibular osteopathy in a dog. J Am Vet Med Assoc 154:657-60, 1969. Pubmed reference: 5812899.
1967 Gehring, H., Brass, W. :
[The "craniomandibular osteopathy" in the dog]. Dtsch Tierarztl Wochenschr 74:546-7, 1967. Pubmed reference: 5631876.
1966 Watkins, J.D., Bradley, R. :
Craniomandibular osteopathy in a labrador puppy. Vet Rec 79:262-4, 1966. Pubmed reference: 6009030.
1958 Littlewort, M.C.G. :
Tumor-like exostoses on the bones of the head in puppies. Veterinary Record 70:977-978, 1958.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 13 Nov 2013
  • Changed by Frank Nicholas on 26 May 2016
  • Changed by Frank Nicholas on 15 Feb 2018