{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T16:40:25Z","timestamp":1779122425089,"version":"3.51.4"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T00:00:00Z","timestamp":1749513600000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The PAN2 gene encodes a subunit of a deadenylation complex.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole\u2010exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5\u2010year\u2010old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole\u2010exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T&gt;A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as \u201clikely pathogenic\u201d according to the ACMG 2015 criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Recently, biallelic loss\u2010of\u2010function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease\u2010causing for the first time in the literature.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2491","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T03:19:22Z","timestamp":1749525562000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Missense Variant in the <scp>PAN2<\/scp> Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of <scp>PAN2<\/scp>\u2010Related Disorders"],"prefix":"10.1002","volume":"117","author":[{"given":"\u00d6zg\u00fcr","family":"\u00c7o\u011fulu","sequence":"first","affiliation":[{"name":"Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2272-3456","authenticated-orcid":false,"given":"Durdug\u00fcl","family":"Ayy\u0131ld\u0131z Emecen","sequence":"additional","affiliation":[{"name":"Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esra","family":"I\u015f\u0131k","sequence":"additional","affiliation":[{"name":"Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asude","family":"Durmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u00e7a","family":"Aykut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda","family":"\u00d6zk\u0131nay","sequence":"additional","affiliation":[{"name":"Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(02)03588-3"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.50"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.03.014"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01077-y"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.010"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309125200"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20200109"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0381531"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201488373"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.2491","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T12:51:54Z","timestamp":1754916714000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.2491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/bdr2.2491"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.2491","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"2024-05-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2491"}}