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OMIA 001214-9615 : Osteochondromatosis in Canis lupus familiaris

In other species: horse , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 133701

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Friedenberg et al. (2018) reported a likely causal variant as "One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the [EXT2] gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 healthy unrelated American Staffordshire Terriers." These same authors note that "Because this mutation arose de novo, the identical mutation is unlikely to be the cause of osteochondromatosis in other dogs. However, de novo mutations in EXT2 are common in humans with osteochondromatosis, and by extension, it is possible that dogs with osteochondromatosis could be identified by sequencing the entire EXT2 gene."

Breed: American Staffordshire terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
EXT2 exostosin glycosyltransferase 2 Canis lupus familiaris 18 NC_006600.3 (45122339..44987310) EXT2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

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
American Staffordshire terrier Osteochondromatosis EXT2 nonsense (stop-gain) CanFam3 18 g.5101754C>A c.969C>A p.Tyr323* 2018 29485212
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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 Friedenberg, S.G., Vansteenkiste, D., Yost, O., Treeful, A.E., Meurs, K.M., Tokarz, D.A., Olby, N.J., Friedenberg, S.G., Vansteenkiste, D., Yost, O., Treeful, A.E., Meurs, K.M., Tokarz, D.A., Olby, N.J. :
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers. J Vet Intern Med 32:986-992, 2018. Pubmed reference: 29485212. DOI: 10.1111/jvim.15073.
1996 Caporn, T.M., Read, R.A. :
Osteochondromatosis of the cervical spine causing compressive myelopathy in a dog Journal of Small Animal Practice 37:133-137, 1996. Pubmed reference: 8683956.
1978 Doige, C,E., Pharr, J.W. :
Chondrosarcoma arising in multiple cartilaginous exostoses in a dog. J Am Anim Hosp Assoc. 14:605–611, 1978.
1971 Chester, D.K. :
Multiple cartilaginous exostoses in two generations of dogs. J Am Vet Med Assoc 159:895-7, 1971. Pubmed reference: 5315272.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 26 Mar 2018