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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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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mutation | c.1189dupG |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | AI; FEH |
Información específica de la prueba
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).
Características clínicas
Los dientes afectados a menudo son pequeños y puntiagudos con mayores huecos entre ellos. Ningún tejido u órgano que no sean los dientes se ven afectados por esta enfermedad. Los trastornos se pueden clasificar en tipos hipoplásicos, de hipomaturación e hipomineralizados.
Información adicional
Referencias
Pubmed ID: 30877375
Year published: 2019
Omia ID: 2177
Omia variant ID: 1045