{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:54:48Z","timestamp":1787064888264,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the\n SF3B2<\/jats:italic>\n gene may lead to CFM. We herein report the case of a neonate with CFM exhibiting rare features of airway obstruction.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Trio whole\u2010exome sequencing and Sanger validation were performed on the proband and her parents. Candidate gene mutations were analyzed using the Genome Aggregation Database (gnomAD) for normal frequency distributions. The Human Splicing Finder (HSF) and Rare Disease Data Center (RDDC) RNA splicer algorithms predicted the variant's harmfulness, verified by a Minigene assay.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The proband had a heterozygous\n SF3B2<\/jats:italic>\n variant, NM_006842.3:c.777+1G>A. The patient's father also carried this variant and exhibited facial abnormalities. The variant was not in gnomAD, and HSF and RDDC RNA splicers indicated donor site disruption. The minigene assay suggested that two mRNA products were produced, leading to a premature termination codon.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n For this family, the pathogenesis of CFM may have been caused by an\n SF3B2<\/jats:italic>\n splicing variant. Affected family members exhibited varying degrees of malformation, indicating that CFM has phenotypic heterogeneity. This finding expands the phenotype and variant spectrum of\n SF3B2<\/jats:italic>\n , enriches neonatal CFM research, and provides a possible guide to genetic counseling.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.2268","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T05:48:52Z","timestamp":1691560132000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7441-4687","authenticated-orcid":false,"given":"Yongli","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neonatology Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaohua","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Neonatology Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Neonatology Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neonatology Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neonatology Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zifeng","family":"Shi","sequence":"additional","affiliation":[{"name":"Center of Imaging Diagnosis Children\u2019s Hospital of Fudan University at Anhui (Anhui Provincial Children\u2019s Hospital) Hefei Anhui Province 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Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T02:38:16Z","timestamp":1720233496000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,9]]},"references-count":18,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/mgg3.2268"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2268","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,9]]},"assertion":[{"value":"2023-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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