{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T17:40:45Z","timestamp":1767634845475,"version":"3.48.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T00:00:00Z","timestamp":1758931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity. SCDO is thought to arise from defects in the paraxial presomitic mesoderm, an embryonic tissue that forms the vertebral column and ribs. Pathogenic variants in\n                    <jats:italic>DLL3<\/jats:italic>\n                    ,\n                    <jats:italic>MESP2<\/jats:italic>\n                    ,\n                    <jats:italic>LFNG<\/jats:italic>\n                    ,\n                    <jats:italic>HES7<\/jats:italic>\n                    ,\n                    <jats:italic>TBX6<\/jats:italic>\n                    , and\n                    <jats:italic>RIPPLY2<\/jats:italic>\n                    have been identified in various SCDO subtypes. In addition, a single case of a lethal SCDO\u2010like phenotype caused by a homozygous start\u2010loss variant in\n                    <jats:italic>DMRT2<\/jats:italic>\n                    has been reported.\n                    <jats:italic>DMRT2<\/jats:italic>\n                    encodes a transcription factor expressed in the dermomyotome during early somite formation in mice. Here, we describe a newborn with severe costovertebral malformations and dysmorphic features, in whom exome sequencing identified a homozygous loss\u2010of\u2010function variant in\n                    <jats:italic>DMRT2<\/jats:italic>\n                    . The phenotype strikingly overlaps the previous report, further supporting the role of biallelic pathogenic\n                    <jats:italic>DMRT2<\/jats:italic>\n                    variants in a severe SCDO\u2010like disorder. Notably, our patient also exhibited thymic aplasia and immunodeficiency. A review of the exome sequencing data did not reveal any variant that could account for the immunodeficiency. These features have not been previously associated with SCDO, suggesting a potential phenotypic expansion.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64270","type":"journal-article","created":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T10:11:49Z","timestamp":1758967909000},"page":"496-501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss\u2010of\u2010Function of\n                    <scp>\n                      <i>DMRT2<\/i>\n                    <\/scp>"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9237-8929","authenticated-orcid":false,"given":"Jonathan","family":"Rips","sequence":"first","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-0376","authenticated-orcid":false,"given":"Hagar","family":"Mor\u2010Shaked","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oded","family":"Shamriz","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Unit, Department of Medicine Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem  Jerusalem Israel"},{"name":"The Lautenberg Center for Immunology and Cancer Research, Institute of Medical Research Israel\u2010Canada Faculty of Medicine, Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[{"name":"Pediatric Department A and the Immunology Service Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Affiliated to the Faculty of Medicine, Tel Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rawan Abu","family":"Omar","sequence":"additional","affiliation":[{"name":"Department of Neonatology Hadassah Hospital and Hebrew University  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smadar","family":"Eventov\u2010Friedman","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"},{"name":"Department of Neonatology Hadassah Hospital and Hebrew University  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5004-2397","authenticated-orcid":false,"given":"Noa","family":"Ofek\u2010Shlomai","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"},{"name":"Department of Neonatology Hadassah Hospital and Hebrew University  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dvorah","family":"Zaguer","sequence":"additional","affiliation":[{"name":"Department of Radiology Hadassah Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3595-7075","authenticated-orcid":false,"given":"Tamar","family":"Harel","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,27]]},"reference":[{"volume-title":"The Harriet Lane Handbook E\u2010Book: The Harriet Lane Handbook E\u2010Book","year":"2023","author":"Anderson C. 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