{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:26:40Z","timestamp":1789644400088,"version":"4.0.0"},"reference-count":92,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2025,5]]},"abstract":"ABSTRACT<\/jats:title>Background<\/jats:title>Split\u2010hand\/foot malformation (SHFM) is a rare, genetically heterogeneous, congenital limb defect. Some but not all associated genes are known; therefore, the aim was to identify genes underlying SHFM.<\/jats:p><\/jats:sec>Methods<\/jats:title>Buccal cell\u2010derived DNA from 26 children with SHFM and their parents who participated in the National Birth Defects Prevention Study was exome sequenced. Family\u2010based trio analyzes prioritized rare coding variants by inheritance patterns, predicted pathogenicity, and location within putative limb development genes. Copy\u2010number variants in SHFM candidate genomic regions were also examined. Case\u2013control analyzes compared coding variants between case children and 1191 controls (parents of children with non\u2010limb birth defects). Variant validation was by Sanger sequencing or droplet digital polymerase chain reaction.<\/jats:p><\/jats:sec>Results<\/jats:title>In family\u2010based analyzes, the prioritized and validated variants (each in a single family) included likely damaging variants that were heterozygous and de novo<\/jats:italic> in speckle type BTB\/POZ protein (SPOP<\/jats:italic>) and ubiquitin\u2010like modifier activating enzyme 2 (UBA2<\/jats:italic>), X\u2010linked recessive in fibroblast growth factor 13 (FGF13<\/jats:italic>) and RNA binding motif protein 10 (RBM10<\/jats:italic>), and compound heterozygous in interleukin enhancer binding factor 3 (ILF3<\/jats:italic>). Validation assays did not confirm predicted de novo<\/jats:italic> copy\u2010number gains at chromosomes 10q24 and 19p13.11. Case\u2013control analyzes did not identify statistically significant associations.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Exome analysis nominated new susceptibility genes (FGF13<\/jats:italic>, ILF3<\/jats:italic>, RBM10<\/jats:italic>, SPOP<\/jats:italic>) and detected a variant in a known candidate gene (UBA2<\/jats:italic>). Follow\u2010up investigation is needed to ascertain damaging variants in these genes in additional cases with SHFM and evaluate the impact of the variants on gene expression, protein function, and limb development.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2472","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T20:01:46Z","timestamp":1746043306000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split\u2010Hand\/Ft Malformation: A Report From the National Birth Defects Prevention Study"],"prefix":"10.1002","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2107-7838","authenticated-orcid":false,"given":"Tonia C.","family":"Carter","sequence":"first","affiliation":[{"name":"Center for Precision Medicine Research Marshfield Clinic Research Institute Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-2698","authenticated-orcid":false,"given":"Denise M.","family":"Kay","sequence":"additional","affiliation":[{"name":"Division of Genetics, Wadsworth Center New York State Department of Health Albany New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0486-1134","authenticated-orcid":false,"given":"Faith","family":"Pangilinan","sequence":"additional","affiliation":[{"name":"Genetics and Environment Interaction Section National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn M.","family":"Almli","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4399-1348","authenticated-orcid":false,"given":"Mary M.","family":"Jenkins","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0633-0305","authenticated-orcid":false,"given":"Elizabeth E.","family":"Blue","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medicine University of Washington Seattle Washington USA"},{"name":"Brotman Baty Institute for Precision Medicine Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pagna","family":"Sok","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Hematology\u2010Oncology Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janson J.","family":"White","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Cunniff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Weill Cornell Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. 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