{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T03:02:45Z","timestamp":1792638165632,"version":"4.5.0"},"reference-count":28,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T00:00:00Z","timestamp":1648166400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>Nager syndrome (NS) is a rare disease marked with craniofacial and preaxial limb anomalies. In this report, we summarized the current evidence to determine a possible genotype\u2013phenotype association among NS individuals. Twenty-four articles comprising of 84 NS (including 9 patients with a severe form of NS [Rodriguez syndrome]) patients were examined, of which 76% were caused by variants in SF3B4 (OMIM *605593, Splicing Factor 3B, Subunit 4). Within the SF3B4 gene, variants located in exon 3 commonly occurred (20%) from a total identified variant, while hotspot location was identified in exon 1 (12%), and primarily occurred as frameshift variants (64%). Thirty-five distinct pathogenic variants within SF3B4 gene were identified with two common sites, c.1A\u2009&gt;\u2009G and c.1060dupC in exons 1 and 5, respectively. Although no significant genotype\u2013phenotype association was found, it is notable that patients with frameshift SF3B4 variants and predicted to lead to nonsense-mediated RNA decay (NMD) of the transcripts tended to have a more severe clinical manifestation. Additionally, patients harboring variants in exons 2 and 3 displayed a higher proportion of cardiac malformations. Taken together, this article summarizes the pathogenic variants observed in SF3B4 and provides a possible genotype\u2013phenotype relationship in this disease.<\/jats:p>","DOI":"10.1177\/10556656221089156","type":"journal-article","created":{"date-parts":[[2022,3,25]],"date-time":"2022-03-25T04:05:38Z","timestamp":1648181138000},"page":"1041-1047","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["<i>SF3B4<\/i>\n                    Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome"],"prefix":"10.1177","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-1940","authenticated-orcid":false,"given":"Zulvikar Syambani","family":"Ulhaq","sequence":"first","affiliation":[{"name":"National Research and Innovation Agency, Republic of Indonesia, Jakarta, Indonesia"},{"name":"Department of Biochemistry, Faculty of Medicine and Health Sciences, Maulana Malik Ibrahim State Islamic University, Malang, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gita Vita","family":"Soraya","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia"},{"name":"Department of Neurology, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lola Ayu","family":"Istifiani","sequence":"additional","affiliation":[{"name":"Department of Nutrition, Faculty of Health Sciences, Brawijaya University, Malang, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syafrizal Aji","family":"Pamungkas","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry, Brawijaya University, Malang, Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William Ka Fai","family":"Tse","sequence":"additional","affiliation":[{"name":"Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,3,25]]},"reference":[{"key":"bibr1-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.2509"},{"key":"bibr2-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.176"},{"key":"bibr3-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1295-2"},{"key":"bibr4-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"bibr5-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12259"},{"key":"bibr6-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1016\/j.clbc.2016.12.009"},{"key":"bibr7-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61121"},{"key":"bibr8-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000002626"},{"key":"bibr9-10556656221089156","doi-asserted-by":"publisher","DOI":"10.1159\/000365769"},{"issue":"3","key":"bibr10-10556656221089156","first-page":"273","volume":"73","author":"Hayata 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