Determination of mutation in the coding regions of FAM83H and ENAM genes in patients with imperfect enamel (Amelogenesis Imperfecta)

Tooth enamel is a precious and highly mineralized tissue in the human body. Amelogenesis Imperfecta (AI) is a developmental, evolutionary and hereditary disease presents  with the rare abnormal formation of enamel that affects the primary and secondary dentition. The molecular base of the incomplete quinizium together with clinical manifestation suggest that AI may result from mutations in the FAM83H and ENAM genes. In this study, we aimed to evaluate the association between Amelogenesis Imperfecta and mutations in the FAM83H and ENAM genes in 18 Iranian families with AI in dominant and non-syndromic form.

18 Iranian families with at least 1 patient with Amelogenesis Imperfecta were included in this case study and were examined for related specific manifestations and also, 10CC of blood was taken from each patient followed by PCR and genome sequence for genetic alterations in FAM83H and ENAM. Genome sequences were analyzed using CLC software and CLC Sequence Viewer was used to compare them with reference sequences in the RefSeq database at the NCBI later were discussed together with clinical manifestations for each patient.

All patients showed a mutation in the exon 5 of FAM83H gene in nucleotide rs56148058C/T which converted Serotonin to Aspartin. In two patients carried a mutation in the nucleotide rs546809055A/G that changed Leucine to Phenylalanine. None of patients showed significant alteration in the ENAM gene.

This study indicates that FAM83H gene plays an import role in incidence of Amelogenesis Imperfecta in Iran.