{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:10:35Z","timestamp":1787015435540,"version":"build-2736575974"},"reference-count":49,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T00:00:00Z","timestamp":1690761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To date more than 1000 different variants in the\n                    <jats:italic>PAH<\/jats:italic>\n                    gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of the\n                    <jats:italic>PAH<\/jats:italic>\n                    gene as well as the population genetics and frequencies of detected variants for each cohort. Published articles on PKU mutations in Iran were identified through a comprehensive PubMed, Google Scholar, Web of Science (ISI), SCOPUS, Elsevier, Wiley Online Library and SID literature search using the terms: \u201cphenylketonuria\u201d, \u201chyperphenylalaninemia\u201d, and \u201cPKU\u201d in combination with \u201cIran\u201d, \u201cIranian population\u201d, \u201cmutation analysis\u201d, and \u201cMolecular genetics\u201d. Among the literature\u2010related to genetics of PKU, 18 studies were on the PKU mutations. According to these studies, in different populations of Iran 1497 patients were included for mutation detection that resulted in detection of 129 different mutations. Results of genetic analysis of the different cohorts of Iranian PKU patients show that the most prevalent mutation in Iran is the pathogenic splice variant c.1066\u201011G\u2009&gt;\u2009A, occurring in 19.54% of alleles in the cohort. Four other common mutations were p.Arg261Gln, p.Pro281Leu, c.168\u2009+\u20095G\u2009&gt;\u2009C and p.Arg243Ter (8.18%, 6.45%, 5.88% and 3.7%, respectively). One notable feature of the studied populations is its high rate of consanguineous marriages. Considering this feature, determining the prevalent PKU mutations could be advantageous for designing screening and diagnostic panels in Iran.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.17865","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T02:14:15Z","timestamp":1690856055000},"page":"2457-2466","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mutational landscape of phenylketonuria in Iran"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8621-2981","authenticated-orcid":false,"given":"Naser","family":"Ajami","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, School of Medicine Mashhad University of Medical Sciences Mashhad Iran"},{"name":"Medical Genetics Research Center, School of Medicine Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anvar","family":"Soleimani","sequence":"additional","affiliation":[{"name":"Department of Medical Microbiology, College of Health Sciences Cihan University\u2010 Sulaimaniya Sulaimaniya Iraq"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Jafarzadeh\u2010Esfehani","sequence":"additional","affiliation":[{"name":"Blood Borne Infections Research Center, Academic Center for Education Culture and Research (ACECR)\u2010 Khorasan Razavi Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojtaba","family":"Hasanpour","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Sciences University of Guilan Rasht Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Rashid\u00a0Shomali","sequence":"additional","affiliation":[{"name":"Reproductive Health Research Center, Department of Obstetrics and Gynecology, Alzahra Hospital Guilan University of Medical Sciences Rasht Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Abbaszadegan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Molecular Medicine, School of Medicine Mashhad University of Medical Sciences Mashhad Iran"},{"name":"Immunology Research Center Mashhad University of Medical Sciences Mashhad 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