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Amelogenesis imperfecta (AI) - Akita Type
| Acronym: | AI |
| Gene: | ACPT |
| Mutation: | c.1189dupG |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Amelogenesis Imperfecta (AI) is a genetic congenital teeth disorder also known as enamel hypoplasia in various dog breeds including Akitas. Tooth enamel makes most of tooth tissue among humans and animals and has a role of a barrier to protect the tooth. AI is affecting deciduous and permanent teeth and is manifested by enamel thinning and roughening or brownish mottling. It starts to develop in early adulthood of the dog. Teeth that are affected appear to be small and pointed with increased gaps. The type of AI found in Akita dogs is caused by a insertion in ACP4 gene whose gene product has an important role in the formation and development of teeth.
Amelogenesis Imperfecta in Akita dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify carriers and help breeders in selecting future mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Hytönen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P., & Lohi, H. (2019). Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Human genetics, 138(5), 525–533. https://doi.org/10.1007/s00439-019-01997-8
Gandolfi B, Liu H, Griffioen L, Pedersen NC. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian greyhounds. Anim Genet. 2013 Aug;44(5):569-78.