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Amelogenesis Imperfecta (Italian Greyhound Type) Overview

Amelogenesis Imperfecta (Italian Greyhound Type)
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells

Gene: Enamelin (ENAM) on chromosome 13

Variant Detected: Nucleotide deletion c.1991_1995delTTTCC p.Phe665Argfs*3

Severity: Scale 2 has a low degree of severity. It has mild effects and generally does not pose any significant health concerns, or is easily managed.

Mode of Inheritance: Autosomal Recessive

Test Overview: Amelogenesis Imperfecta Italian Greyhound type is a congenital teeth disorder also known as enamel hypoplasia in Italian Greyhounds.Amelogenesis Imperfecta in Italian Greyhound is affecting deciduous and permanent teeth and is manifested by enamel thinning and roughening or brownish mottling in areas of enamel thinning. It starts to develop in early adulthood of the dog. Teeth that are affected appear to be small and pointed with increased gaps. While amelogenesis imperfecta causes cavity in humans, this condition does not occur in dogs, due to maintained basic tooth structure throughout life.

Research Citation(s): Gandolfi, B. et al. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds (2013), Animal Genet, 44, 569–578

Associated Breed(s): Italian Greyhound,  Mixed Breed,