{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T17:04:19Z","timestamp":1793120659541,"version":"4.5.0"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,3]],"date-time":"2023-12-03T00:00:00Z","timestamp":1701561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Calmodulin\u2010binding transcriptional activator 1 (CAMTA1) is highly expressed in the brain and plays a role in cell cycle regulation, cell differentiation, regulation of long\u2010term memory, and initial development, maturation, and survival of cerebellar neurons. The existence of human neurological phenotypes, including cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA), associated with\n                    <jats:italic>CAMTA1<\/jats:italic>\n                    variants, has further supported its role in brain functions. In this study, we phenotypically and molecularly characterize the largest cohort of individuals (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200926) with 23 novel\n                    <jats:italic>CAMTA1<\/jats:italic>\n                    variants (frameshift\u20107, nonsense\u20106, splicing\u20101, initiation codon\u20101, missense\u20105, and intragenic deletions\u20103) and compare the findings with all previously reported cases (total\u2009=\u200953). We show that the most notable phenotypic findings are developmental delay\/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and nonspecific brain MRI findings; a few of which have been under\u2010reported. More than one third of the variants in this cohort were inherited from an asymptomatic or mildly affected parent suggesting reduced penetrance and variable expressivity. Our cohort provides a comprehensive characterization of the spectrum of phenotypes and genotypes among individuals with CECBA and the large data will facilitate counseling and formulating management plans and surveillance recommendations for these individuals.\n                  <\/jats:p>","DOI":"10.1111\/cge.14464","type":"journal-article","created":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T01:40:35Z","timestamp":1701654035000},"page":"294-301","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>CAMTA1\u2010related<\/scp>\n                    disorder: Phenotypic and molecular characterization of 26 new individuals and literature review"],"prefix":"10.1111","volume":"105","author":[{"given":"Hussam","family":"Al\u2010Kateb","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Y. Billie","family":"Au","sequence":"additional","affiliation":[{"name":"University of Calgary, Alberta Children's Hospital University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siren","family":"Berland","sequence":"additional","affiliation":[{"name":"Department of medical genetics Haukeland University Hospital  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Nantes Service de G'en'etique M'edicale  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Demurger","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique  Vannes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Fluss","sequence":"additional","affiliation":[{"name":"Genetic Medicine division, Diagnostic Department H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Nantes Service de G'en'etique M'edicale  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Matthew","family":"Frank","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of The King's Daughters  Norfolk Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Varvagiannis","sequence":"additional","affiliation":[{"name":"Genetic Medicine division, Diagnostic Department H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2794-8486","authenticated-orcid":false,"given":"Marie","family":"McDonald","sequence":"additional","affiliation":[{"name":"Duke University Medical Center  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Duke University Medical Center  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Moortgat","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Deprez","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Karadurmus","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Paulsen","sequence":"additional","affiliation":[{"name":"Department of medical genetics Haukeland University Hospital  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Rieger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Vasileiou","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia","family":"Willing","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1329-4100","authenticated-orcid":false,"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri 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