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Amelogenesis Imperfecta
Breed: Parson Russell Terrier
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: There is some evidence or research available in this breed
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
Amelogenesis Imperfecta
OMIA
1805
Gene Name
ENAM
Gene Name 2
SLC24A4
Mutation
c.1992_1996delTTTCC
Mutation 2
21 bp duplication in exon 17
Test Type
Genetic Disease/Disorder
Details
The disease is caused by a thinning or absent outer enamel layer with irregular pitting, paired with with patchy tooth discoloration. Owners report teeth appearing smaller, and having a "rough" texture with dark patches. Dogs can experience sensitivity, tooth wear, tartar, gingivitis, bad breath, and periodontal diseases leading to tooth loss and gum problems. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed).
Details 2
The disease is characterized by a thinning or absent outer enamel layer with irregular pitting. Appearing with patchy tooth discoloration, sensitivity, tooth wear, tartar, gingivitis and periodontitis. All in all, can cause a "rough" texture and "dark patches" on the teeth. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed). Associated periodontal disease can lead to bone loss, gum recession and tooth loss. Halitosis is also common.
Application Information
Mutations are breed-specific. Not to be confused with Amelogenesis Imperfecta, ACP4-related.
Published
Gandolfi, B., Liu, H., Griffioen, L., Pedersen, N.C. : Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Anim Genet 44:569-78, 2013. Pubmed reference: 23638899. DOI: 10.1111/age.12043.
Published 2
Pedersen, N.C., Shope, B., Liu, H. : An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol 4:11, 2017. Pubmed reference: 29201383. DOI: 10.1186/s40575-017-0049-1.
Body/System/Process
Teeth
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Greyhound, Standard Poodle, Samoyed
Breed-specific 1
Samoyed
Breed-specific 1 Details
SLC24A4 gene, with the 21 bp duplication in exon 17 mutation
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
ENAM
Mutation
c.716C>T
GTP- or Breed-Specific Publications
Human Genetics (2019) 138:525?533
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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