{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:59:20Z","timestamp":1763020760291,"version":"3.45.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":300,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Mandibulofacial dysostosis type Guion\u2010Almeida (MFDGA) is a rare autosomal dominant disorder characterized by malar and mandibular hypoplasia, microcephaly and diverse craniofacial and extracranial malformations, caused by pathogenic variants in the\n                    <jats:italic>EFTUD2<\/jats:italic>\n                    gene. This study investigates a 12\u2010year\u2010old boy presenting with congenital microcephaly, choanal atresia, recurrent respiratory infections, moderate hearing loss and typical MFDGA features, born to healthy non\u2010consanguineous Iranian parents. Whole\u2010exome sequencing (WES) was employed, with variants filtered and prioritized using the Phenomizer algorithm based on Human Phenotype Ontology terms. A novel de novo frameshift variant in\n                    <jats:italic>EFTUD2<\/jats:italic>\n                    (c.1237delC; p.Arg413Alafs*53) was identified and validated by Sanger sequencing. This variant was absent in the parents and healthy brother but detected in an aborted sibling with oesophageal atresia, reinforcing a genotype\u2013phenotype correlation. Paternity and segregation analyses confirmed the biological relationships and de novo nature of the variant, likely arising from germline mosaicism. This finding links the variant to choanal atresia and oesophageal atresia and supports the use of Phenomizer as supplementary aids in validating gene\u2013phenotype correlations during WES analysis, particularly in disorders with variable clinical presentations.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70063","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:43:04Z","timestamp":1761662584000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole\u2010Exome Sequencing Revealed a Novel De Novo Pathogenic\n                    <i>EFTUD2<\/i>\n                    Variant in Mandibulofacial Dysostosis, Guion\u2010Almeida Type: Reinforcing Links to Choanal and Oesophageal Atresia"],"prefix":"10.1002","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4054-1704","authenticated-orcid":false,"given":"Omid","family":"Jazayeri","sequence":"first","affiliation":[{"name":"Department of Molecular and Cell Biology Faculty of Science, University of Mazandaran  Babolsar Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2426-7175","authenticated-orcid":false,"given":"Nassim","family":"Gorjizadeh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics DeNA Laboratory  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad\u00a0Reza","family":"Salehiomran","sequence":"additional","affiliation":[{"name":"Non\u2010Communicable Pediatric Disease Research Center, Health Research Institute Babol University of Medical Sciences  Babol Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8381-6492","authenticated-orcid":false,"given":"Krista\u00a0K.","family":"van Dijk\u2010Bos","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0497-4780","authenticated-orcid":false,"given":"Richard\u00a0J.","family":"Sinke","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3182922b49"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32816"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220603.09661.7e"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22924"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01121-y"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/and.13521"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1026"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.003"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22517"},{"key":"e_1_2_12_11_1","unstructured":"Lines M. T.Hartley S.K.MacDonald K.M.Boycott.1993. \u201cMandibulofacial Dysostosis With Microcephaly.\u201d University of Washington Seattle Seattle (WA)."},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.08.008"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-229831"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-014-0255-4"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12123"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32747"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31752"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000214"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70063","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:55:47Z","timestamp":1763020547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/jdn.70063"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70063","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"type":"print","value":"0736-5748"},{"type":"electronic","value":"1873-474X"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-04-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70063"}}