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GENATLAS PHENOTYPE

last update : 24-01-2023

Symbol	AIH4
Location	8q24.3
Name	amelogenesis imperfecta 4, hypocalcification type
Other name(s)	Amelogenesis imperfecta, type III
Corresponding gene	FAM83H
Other symbol(s)	AI3
Main clinical features	affecting both deciduous and permanent dentitions, with enamel softer than normal and presenting a yellowish color with loss of normal translucence on dental radiographs, the enamel was more radiopaque than dentin, indicating severe hypomineralization
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

FAM83H mutation could inhibit the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway (PMID: 29709481)) AIH4 caused by the FAM83H mutation is mediated by the disorganization of the keratin cytoskeleton and subsequent disruption of desmosomes in ameloblasts (PMID: 27222304))