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Amelogenesis Imperfecta (AI) / Familial Enamel Hypoplasia (FEH) - Samoyed Type
| Acronym: | AI |
| Gene: | SLC24A4 |
| Mutation: | g.1639448C>T, g.1679098-1679118dupl |
| 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 familial enamel hypoplasia (FEH) in various dog breeds including Samoyed. This type of tooth disease is a part of 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 show signs and symptoms that include: abnormal and badly discolored teeth, irregular tooth surface, heavy tarter accumulation, gum disease, caries, and tooth loss. This type of AI affecting Samoyed dogs is a consequence of duplication in the SLC24A4 gene that encodes a member of the potassium-dependent sodium/calcium exchanger protein family with an important role in enamel development.
Amelogenesis Imperfecta in Samoyed 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:
Nicholas, F. W., Mellersh, C., Lewis, T. (2018). Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine genetics and epidemiology, 5, 4. https://doi.org/10.1186/s40575-018-0059-7
Pedersen, N. C., Shope, B., Liu, H. (2017). An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine genetics and epidemiology, 4, 11. https://doi.org/10.1186/s40575-017-0049-1