{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:00:56Z","timestamp":1791468056897,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:00:00Z","timestamp":1791417600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To our knowledge, we report the first combined homozygous deletion of\n                    <jats:italic>ALCAM<\/jats:italic>\n                    and\n                    <jats:italic>CBLB<\/jats:italic>\n                    at 3q13.11\u2010q13.12. The patient, a 14\u2010year\u2010old boy born to consanguineous parents, had a multisystem phenotype with severe congenital ocular and craniofacial anomalies, early\u2010onset osteoporosis, progressive scoliosis, growth failure, congenital heart defect, humoral immunodeficiency, and chronic inflammatory findings. SNP array identified a 2.5\u2010Mb homozygous deletion spanning\n                    <jats:italic>ALCAM<\/jats:italic>\n                    and\n                    <jats:italic>CBLB<\/jats:italic>\n                    , and expression studies confirmed complete absence of\n                    <jats:italic>ALCAM<\/jats:italic>\n                    and\n                    <jats:italic>CBLB<\/jats:italic>\n                    expression. Whole\u2010exome sequencing did not identify an alternative molecular diagnosis. The clinical presentation is likely attributable to combined\n                    <jats:italic>ALCAM<\/jats:italic>\n                    and\n                    <jats:italic>CBLB<\/jats:italic>\n                    loss. Previous animal\u2010model studies support interpretation of the individual phenotypic components by linking loss of these genes to craniofacial developmental abnormalities, skeletal findings, and immune dysregulation. We propose that this deletion may represent a candidate novel contiguous gene deletion syndrome. This case is the first human phenotype associated with complete\n                    <jats:italic>ALCAM<\/jats:italic>\n                    loss in a contiguous deletion and expands the clinical spectrum associated with disruption of\n                    <jats:italic>ALCAM<\/jats:italic>\n                    and\n                    <jats:italic>CBLB<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.70259","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T13:22:21Z","timestamp":1791465741000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Homozygous\n                    <i>ALCAM\u2013CBLB<\/i>\n                    Deletion at 3q13.11\u2010q13.12 Defines a Candidate Novel Oculo\u2010Skeletal\u2010Immune Contiguous Gene Deletion Syndrome"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2033-1685","authenticated-orcid":false,"given":"Nilay Kan","family":"Menk\u00fc","sequence":"first","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2439-301X","authenticated-orcid":false,"given":"Mehlika Meryem","family":"Sar\u0131","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1374-5939","authenticated-orcid":false,"given":"Filiz Ba\u015fak","family":"Ergin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4854-4073","authenticated-orcid":false,"given":"Tu\u011f\u00e7e","family":"\u0130nal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3876-9977","authenticated-orcid":false,"given":"Kaz\u0131m","family":"Se\u00e7gen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4294-7492","authenticated-orcid":false,"given":"Avniye K\u00fcbra","family":"Bask\u0131n","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy and Immunology, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00fc\u015ft\u00fc Fikret","family":"Akata","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-3118","authenticated-orcid":false,"given":"Fatih","family":"Ezg\u00fc","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics Faculty of Medicine, Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,8]]},"reference":[{"issue":"6","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1084\/jem.181.6.2213","article-title":"Cloning, Mapping, and Characterization of Activated Leukocyte\u2010Cell Adhesion Molecule (ALCAM), a CD6 Ligand","volume":"181","author":"Bowen M. 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