Distribution of PAH gene mutations in PKU patients fromnorthwestern Iran

As an autosomal recessive disorder, Phenylketonuria (PKU; MIM #۲۶۱۶۰۰) is caused by phenylalanine hydroxylase(PAH) gene mutations. Iran has a highest prevalence rate of PKU in the world and so far, several studies have beenconducted on identifying PAH gene mutations among Iranian PKU patients. The aim of this study was to describe thedistribution of PAH gene mutations in PKU patients from northwestern Iran.Using the on-line databases of PubMed/Medline, Scopus, ProQuest, Web of Science, Magiran, Science Direct, GoogleScholar and SID a comprehensive search was performed. Our keywords were as follows: Iran, PKU, PAH,Phenylketonuria, Phenylalanine Hydroxylase (as well as their Persian equivalents), in all possible combinations. Afterapplying inclusion and exclusion criteria, the studies related to PAH gene mutations in PKU patients fromnorthwestern Iran were extracted.Finally, four eligible articles were included in this study [۱-۴]. The total number of patients and the total number ofunique mutations were ۱۲۴ and ۲۷, respectively. The patients were originated from East Azerbaijan, West Azerbaijan,Ardebil and Zanjan/Qazvin provinces. The mutations of IVS۱۰–۱۱G>A (c.۱۰۶۶-۱۱G>A), p.Arg۲۶۱Gln (c.۷۸۲G>A),p.Pro۲۸۱Leu (c.۸۴۲C>T), and p.Ser۶۷Pro (c.۱۹۹T>C) had the highest frequencies in northwestern Iran. Thesemutations accounted for about half of the total mutated alleles.Some studies, with sample sizes from all over parts of Iran, failed to report the exact number of patients as well as theexact allele frequencies based on different geographical locations [۵]. Therefore, it seems that the number of uniquemutations among PKU patients from northwestern Iran is more than those observed in this study. In conclusion, ourresults are a good reference for physicians in advising couples originated from northwestern Iran who have PAH genemutations in their genomes.

کلیدواژه ها:

PKU ، PAH gene ، Mutation ، Northwest Iran.