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

•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.