Background and purpose: Phenylketonuria (PKU), a genetic disorder with an autosomal recessive pattern of inheritance, is mainly due to phenyalanine hydroxylase deficiency. In Iran, many studies have investigated the genetics of this disease among different populations. This study aimed to report the frequencies of the mutations for each population as determined in different studies.
Materials and methods: The studies that were published during 2003-2015 in online databases including PubMed, ISI Web of Science, SCOPUS, Science Direct, SID, Wiley Online Library, and Elsevier were searched. To this aim, a combination of the following keywords was employed: 'phenylketonuria', 'phenylketonuria + Iran', 'mutation + phenylketonuria + Iran', and 'phenylketonuria + genetics and Iran'.
Results: Totally, 11 studies were on the genetics of PKU. According to the results, 53 mutations were reported in different populations of Iran. Nonsense, deletion, missense, and splice-site mutations, were detected in 6, 6, 28, and 30 cases, respectively. Furthermore, IVS10-11G>A and p.Pro281Leu, p.Gln383Ter and IVS10-11G>A, and p.Arg252Trp were found to be the most prevalent mutations in Azerbayjan and Kermanshah, Khorasan, and Isfahan, repectively. Additionally, p.Gln375Arg and p.Gln383Ter were the two mutations observed in Khuzestan and Khorasan for the first time.
Conclusion: Considering the prevalence of consanguineous marriage in Iran, determining the common PAH gene mutations is important for designing screening panels.