{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:59:20Z","timestamp":1791197960791,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,9,12]],"date-time":"2013-09-12T00:00:00Z","timestamp":1378944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the <jats:italic><jats:styled-content style=\"fixed-case\">SF3B4<\/jats:styled-content><\/jats:italic> gene as the cause of this condition in most patients. <jats:italic><jats:styled-content style=\"fixed-case\">SF3B4<\/jats:styled-content><\/jats:italic> encodes a highly conserved protein implicated in <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> splicing and bone morphogenic protein (<jats:styled-content style=\"fixed-case\">BMP<\/jats:styled-content>) signaling. We performed <jats:italic><jats:styled-content style=\"fixed-case\">SF3B4<\/jats:styled-content><\/jats:italic> sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss\u2010of\u2010function. <jats:italic><jats:styled-content style=\"fixed-case\">SF3B4<\/jats:styled-content><\/jats:italic> is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype\u2013phenotype correlations. Most mutation\u2010negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity.<\/jats:p>","DOI":"10.1111\/cge.12259","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T17:18:19Z","timestamp":1378315099000},"page":"246-251","source":"Crossref","is-referenced-by-count":78,"title":["Nager syndrome: confirmation of <i><scp>SF3B4<\/scp><\/i> haploinsufficiency as the major cause"],"prefix":"10.1111","volume":"86","author":[{"given":"F.","family":"Petit","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique H\u00f4pital Jeanne de Flandre, CHRU Lille  Lille France"},{"name":"Laboratoire de Biologie Mol\u00e9culaire Centre de Biologie Pathologie, CHRU Lille  Lille France"},{"name":"Universit\u00e9 Lille Nord de France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Escande","sequence":"additional","affiliation":[{"name":"Laboratoire de 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