Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

Highlights • In this paper a missense mutation in exon 5 of FAM83H gene was identified for the first time. • The missense variant, p.Gly557Cys, is associated with amelogenesis imperfecta hypocalcified. • The amelogenesis imperfecta phenotype is less severe than that observed in other similar cases reported. • The affected enamel is formed by prisms altered at ultrastructural level. • The affected enamel retains proteins amelogenin type.