The detail information of Craniomandibular osteopathy, SLC37A2-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant with incomplete penetrance
Considered a defect: yes
Year key mutation first reported: 2016
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
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.
2020 |
Letko,A.,Leuthard,F.,Jagannathan,V.,Corlazzoli,D.,Matiasek,K.,Schweizer,D.,Hytönen,M.K.,Lohi,H.,Leeb,T.,Drögemüller,C.: :
Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs. Genes (Basel) 11:, 2020. Pubmed reference: 32033218 . DOI: 10.3390/genes11020163 . |
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 . |
2016 |
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 . |
2002 |
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 . |
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. |
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 . |
1986 |
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 . |
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 . |
1958 |
Littlewort,M.C.G.: :
Tumor-like exostoses on the bones of the head in puppies. Veterinary Record 70:977-978, 1958. |