Craniomandibular Osteopathy
Breed: Scottish Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Craniomandibular Osteopathy
OMIA
2244
Gene Name
SLC37A2
Mutation
c.1332C>T
Test Type
Genetic Disease/Disorder
Details
Craniomandibular Osteopathy (CMO) is a disease causing extensive developmental changes in the bones of the skull and jaw. Symptoms include hard swelling and thickening of the jaw to the point of the mouth cannot fully open, drooling, severe pain and reoccuring tenderness, and difficulty eating. Treatment is limited to managing the symptoms. Inability to eat can cause malnutrition, and this, coupled with pain or difficulty with treatment can lead to a dog being euthanised.
Details 2
A four-month-old West Highland White Terrier was presented to the Small Animal Teaching Hospital at the University of Liverpool with the complaint of a bilateral angular carpal deformity. A 20° valgus deformity was present in both thoracic limbs, centred on the distal radial physes. Both distal ulnas were grossly thickened and there was concomitant thickening of the rostral mandible and calvarium. The dog exhibited signs of resentment on palpation of the mandible and signs of pain were elicited on flexion and extension of both elbow joints. No signs of pain were evident on palpation of the ulnas or calvarium. Radiographic images of both ulnas showed marked amorphous periosteal new bone formation. The distal ulnar physes were closed centrally and both elbow joints had humeroulnar subluxation. Radiographic changes to the calvarium and mandibular rami were consistent with a diagnosis of craniomandibular osteopathy. A bilateral ulna ostectomy was performed to correct the angular limb deformity and elbow subluxations. Histology of the ostectomised pieces showed changes consistent with craniomandibular osteopathy. (Pettitt et al, 2012)
Published
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.
Published 2
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.
Published 3
Donner, J., Kaukonen, M., Anderson, H., Móller, F., Kyóstilä, K., Sankari, S., Hytónen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Di
Body/System/Process
Skeletal
OMIA Url
Inheritance
ADIP
Breed Specific Info
Researched Breeds
Cairn Terrier, Scottish Terrier, West Highland White terrier
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Nature of test
mutation test
FCI Number
73
GTP Breed
Scottish Terrier
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
73
GTP Breed
Scottish Terrier
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Nature of test
mutation test
FCI Number
73
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Nature of test
mutation test
FCI Number
73
GTP Breed
Scottish Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Nature of test
mutation test
FCI Number
73
GTP Breed
Scottish Terrier
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
Mutation Comment
g.9387327G>A
Nature of test
mutation test
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
CMO
Gene Name
SLC37A2
Mutation
c.1332C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC37A2
Mutation
c.1332C>T