{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T03:14:36Z","timestamp":1788405276021,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"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":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Vissers\u2010Bodmer Syndrome (VIBOS) is a rare autosomal dominant neurodevelopmental disorder caused by variants in the\n                    <jats:italic>CNOT1<\/jats:italic>\n                    gene. Affected individuals present with a broad clinical spectrum of developmental delays, intellectual disability, seizures, hypotonia, and behavioral challenges. Most affected individuals also have nonspecific dysmorphic facial features but no recognizable gestalt. We report a\n                    <jats:italic>de novo<\/jats:italic>\n                    pathogenic\n                    <jats:italic>CNOT1<\/jats:italic>\n                    variant in a 6\u2010month\u2010old male patient who was evaluated for imperforate anus, partial agenesis of the corpus callosum, macrocephaly, hydronephrosis, overlapping toes, and fifth nail hypoplasia. Clinical trio exome sequencing identified a\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous\n                    <jats:italic>CNOT1<\/jats:italic>\n                    nonsense variant (c.4918C&gt;T, p.(Arg1640*)) that has not been previously reported. The patient is now 3\u2009years old and has no growth or developmental concerns in clinical follow\u2010up. This case highlights a novel pathogenic\n                    <jats:italic>CNOT1<\/jats:italic>\n                    variant and extends the clinical spectrum of VIBOS to include age\u2010appropriate growth and neurodevelopment and the previously unreported presentation of imperforate anus. Recognition of these additional findings may facilitate earlier diagnosis and enhance understanding of the phenotypic variability associated with VIBOS.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70284","type":"journal-article","created":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T02:35:13Z","timestamp":1788402913000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotypic and Phenotypic Spectrum of Vissers\u2010Bodmer Syndrome"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2275-4202","authenticated-orcid":false,"given":"Kyle","family":"Harris","sequence":"first","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tauras","family":"Vucianis","sequence":"additional","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9990-0575","authenticated-orcid":false,"given":"Eyad","family":"Bouso","sequence":"additional","affiliation":[{"name":"University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7447-8117","authenticated-orcid":false,"given":"Amelle","family":"Shillington","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5591-9335","authenticated-orcid":false,"given":"Yaning","family":"Wu","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266221095305"},{"issue":"1","key":"e_1_2_7_3_1","doi-asserted-by":"crossref","DOI":"10.1038\/s41572-024-00574-2","article-title":"Anorectal Malformations","volume":"10","author":"Blaauw I.","year":"2024","journal-title":"Nature Reviews Disease Primers"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.018"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63360"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13238-011-1092-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20180456"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2024.e26743"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.05.017"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63439"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70284","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70284","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T02:35:14Z","timestamp":1788402914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,2]]},"references-count":9,"alternative-id":["10.1002\/ajmg.a.70284"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70284","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,2]]},"assertion":[{"value":"2026-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.a.70284"}}