{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:34:11Z","timestamp":1786980851814,"version":"build-2736575974"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T00:00:00Z","timestamp":1535500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"KHGRC"},{"name":"Kawsar Human Genetics Research Center in Tehran, Iran"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (\n                    <jats:italic>PAH<\/jats:italic>\n                    ) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency of about one in 10,000 to 15,000 live births.\n                    <jats:italic>PAH<\/jats:italic>\n                    deficiency can be detected by neonatal screening in nearly all cases with hyperphenylalaninemia on a heel prick blood spot. Molecular testing of the\n                    <jats:italic>PAH<\/jats:italic>\n                    gene can then be performed in affected family members. Herein, we report molecular study of 635 patients genetically diagnosed with PKU from all ethnicities in Iran. The disease\u2010causing mutations were found in 611 (96.22%) of cases. To the best of our knowledge, this is the most comprehensive molecular genetics study of PKU in Iran, identifying 100 distinct mutations in the\n                    <jats:italic>PAH<\/jats:italic>\n                    gene, including 15 previously unreported mutations. Interestingly, we found unique cases of PKU with uniparental disomy, germline mosaicism, and coinheritance with another Mendelian single\u2010gene disorder that provides new insights for improving the genetic counseling, prenatal diagnosis (PND), and\/or pre\u2010implantation genetic diagnosis (PGD) for the inborn error of metabolism group of disorders.\n                  <\/jats:p>","DOI":"10.1007\/s10545-018-0228-6","type":"journal-article","created":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T19:53:43Z","timestamp":1535572423000},"page":"1159-1167","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population"],"prefix":"10.1002","volume":"41","author":[{"given":"Tina","family":"Shirzadeh","sequence":"first","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3512-0654","authenticated-orcid":false,"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"},{"name":"Genetic, Genomics and Cancer Biology PhD Program Thomas Jefferson University Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamideh","family":"Bagherian","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shadab","family":"Salehpour","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran"},{"name":"Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aria","family":"Setoodeh","sequence":"additional","affiliation":[{"name":"Growth and Development Research Center Tehran University of Medical Sciences Tehran Iran"},{"name":"Department of Pediatrics Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Alaei","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4253-6503","authenticated-orcid":false,"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"},{"name":"Genetic, Genomics and Cancer Biology PhD Program Thomas Jefferson University Philadelphia PA USA"},{"name":"Department of Medical Genetics, School of Medicine Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashraf","family":"Samavat","sequence":"additional","affiliation":[{"name":"Genetics Office, CDC Ministry of Health of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Touati","sequence":"additional","affiliation":[{"name":"Drexel University College of Medicine Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad\u2010Sadegh","family":"Fallah","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4298-9147","authenticated-orcid":false,"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College Thomas Jefferson University Philadelphia PA USA"},{"name":"Department of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morteza","family":"Karimipoor","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Biotechnology Research Center Pasteur Institute of Iran Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Azadmehr","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzieh","family":"Raeisi","sequence":"additional","affiliation":[{"name":"Research Institute for Endocrine Science Shahid Beheshti University of Medical Sciences Tehran Iran"},{"name":"Department of cellular and molecular biology Islamic Azad University North Tehran branch Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameneh","family":"Bandehi Sarhadi","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Zafarghandi Motlagh","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics Research Center 41 Majlesi St., Vali Asr St. Tehran 1595645513 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojdeh","family":"Jamali","sequence":"additional","affiliation":[{"name":"Kawsar Human Genetics 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