{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T07:03:12Z","timestamp":1774940592779,"version":"3.50.1"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    PURA syndrome is a rare genetic disease characterized by significant phenotypic variability. This case report presents a 4-day-old female neonate presenting with hypotonia, feeding difficulties, and other symptoms. Following comprehensive clinical examination, including laboratory tests, imaging studies, and genetic analysis, the patient was diagnosed with PURA syndrome. Whole-exome sequencing was performed on blood samples collected from the patient and her parents, revealing a novel\n                    <jats:italic>PURA<\/jats:italic>\n                    gene mutation [c.463C&amp;gt;G (p.Tyr155Ter), NM_005859.5], which had not been previously recorded in the literature. This case report aims to expand the known genotype of PURA syndrome and support clinicians in early detection and diagnosis. Early diagnosis facilitates immediate initiation of targeted swallowing function assessment and rehabilitation training, prevents aspiration pneumonia, and guides families in genetic counseling to avoid recurrence risk.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1811556","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:32:19Z","timestamp":1774935139000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Neonatal PURA syndrome caused by a novel c.463C&gt;G (p.Tyr155Ter) mutation"],"prefix":"10.3389","volume":"14","author":[{"given":"Yongxin","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neonatology and Neonatal Intensive Care, Jieyang People's Hospital","place":["Jieyang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,31]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"194","DOI":"10.21037\/tp-20-248","article-title":"Neonatal PURA syndrome: a case report and literature review","volume":"10","author":"Liu","year":"2021","journal-title":"Transl Pediatr"},{"key":"B2","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.ajhg.2014.09.014","article-title":"Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome","volume":"95","author":"Lalani","year":"2014","journal-title":"Am J Hum Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1002\/jcp.24237","article-title":"The pur protein family: genetic and structural features in development and disease","volume":"228","author":"Johnson","year":"2013","journal-title":"J Cell Physiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1136\/jmedgenet-2014-102798","article-title":"Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability","volume":"51","author":"Hunt","year":"2014","journal-title":"J Med Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.4161\/cc.8.3.7585","article-title":"Multiple roles for PURAlpha in cellular and viral regulation","volume":"8","author":"White","year":"2009","journal-title":"Cell Cycle"},{"key":"B6","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.gene.2017.12.004","article-title":"PURA, the gene encoding pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions","volume":"643","author":"Daniel","year":"2018","journal-title":"Gene"},{"key":"B7","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/jdn.10266","article-title":"A new case with the recurrent PURA p.(Phe233del) pathogenic variant: expansion of the phenotype and review of the literature","volume":"83","author":"Ben Issa","year":"2023","journal-title":"Int J Dev Neurosci"},{"key":"B8","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1002\/ajmg.a.38521","article-title":"Expanding the neurodevelopmental phenotype of PURA syndrome","volume":"176","author":"Lee","year":"2018","journal-title":"Am J Med Genet A"},{"key":"B9","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1136\/jmedgenet-2017-104946","article-title":"PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature","volume":"55","author":"Reijnders","year":"","journal-title":"J Med Genet"},{"key":"B10","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1186\/s13023-025-03908-9","article-title":"Genotype-phenotype variations in PURA syndrome: asian and non-Asian perspectives from a systematic review","volume":"20","author":"Liu","year":"2025","journal-title":"Orphanet J Rare Dis"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1811556\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T05:32:21Z","timestamp":1774935141000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2026.1811556\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,31]]},"references-count":10,"alternative-id":["10.3389\/fped.2026.1811556"],"URL":"https:\/\/doi.org\/10.3389\/fped.2026.1811556","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,31]]},"article-number":"1811556"}}