Deutsch
Hrvatski
Русский
Português
Amelogenesis Imperfecta (AI) - Parson Russell Terrier
| Acronym: | AI |
| Gene: | ENAM |
| Mutation: | c.716C>T |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Amelogenesis Imperfecta (AI) is a heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Tooth enamel is a mineralized tissue that makes up most of the tooth tissue among humans and animals and has a role of a barrier to protect the tooth. Affected dogs usually have teeth that lack normal hard and shiny enamel and their crown surface appears dull, rough, and hypocalcified. Few variants of AI have been reported in dogs, including breeds such as American Akita, Italian Greyhound, and Parson Russell Terrier. Every variant is caused by a mutation in a specific gene and this ENAM variant, with a point mutation in the ENAM gene, is specific for Parson Russell Terrier dogs. The ENAM gene encodes a protein called enamelin, which is essential for normal tooth development.
Amelogenesis Imperfecta in Parson Russell Terrier 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