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Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.1189dupG |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | AI; FEH |
Informations générales
Amelogenesis Imperfecta (AI), also known as Familial Enamel Hypoplasia (FEH), represents a heterogeneous group of hereditary disorders affecting tooth enamel. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling.
This variant of the disorder, also known as Amelogenesis Imperfecta 3, is found in the Akita Inu. It is caused by a recessive mutation to the gene ACPT (also known as ACP4).
Caractéristiques cliniques
Les dents touchées sont souvent petites et pointues avec des espaces accrus. Aucun tissu ou organe autre que les dents n’est affecté par cette maladie. Tous les troubles peuvent être classés en types hypoplasiques, hypomaturation et hypominéralisés.
Additional Information
Références
Pubmed ID: 30877375
Year published: 2019
Omia ID: 2177
Omia variant ID: 1045