{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T22:19:07Z","timestamp":1789165147605,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"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":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Cerebellar ataxia, mental retardation, and dysequilibrium (CAMRQ) syndrome is a rare neurodevelopmental disorder characterized by non\u2010progressive cerebellar ataxia, intellectual disability, and cerebellar atrophy. Despite its rarity, CAMRQ syndrome poses significant challenges due to its heterogeneous genetic etiology and complex clinical presentation. This study details the evolving clinical phenotype over 7\u2009years in a male with CAMRQ4 syndrome caused by an in\u2010frame deletion variant in\n                      <jats:italic>ATP8A2<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A detailed clinical evaluation was performed, accompanied by tests and imaging studies. Clinical and genetic investigations, including segregation analysis, were carried out to confirm the pathogenicity of the identified variant. The evolving clinical phenotype of the patient, including developmental delay, cerebellar ataxia, and hand\u2010foot crawling, was thoroughly investigated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A 10\u2010year\u2010old male patient with CAMRQ syndrome exhibited typical clinical manifestations including impaired motor coordination, cognitive impairment, and balance disturbances. Genetic analysis revealed a homozygous in\u2010frame deletion variant (c.1286_1288delAGA) in the\n                      <jats:italic>ATP8A2<\/jats:italic>\n                      gene, implicating\n                      <jats:italic>ATP8A2<\/jats:italic>\n                      in the pathogenesis of CAMRQ syndrome. This variant was predicted to be likely pathogenic and deleterious, in accordance with its segregation in affected family members. Our findings expand the mutational spectrum of ATP8A2\u2010associated CAMRQ syndrome and underscore the importance of comprehensive genetic testing in diagnosing rare neurological disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The identification of an in\u2010frame deletion variant in the\n                      <jats:italic>ATP8A2<\/jats:italic>\n                      gene enhances our understanding of CAMRQ syndrome and highlights the phenotypic variability of the disorder. Our study contributes to the elucidation of CAMRQ syndrome by identifying a novel genetic variant and elucidating its clinical and genetic implications. Further research is warranted to advance our understanding of CAMRQ syndrome and to improve patient care and management strategies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70081","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T04:38:46Z","timestamp":1739248726000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the\n                    <scp>\n                      <i>ATP8A2<\/i>\n                    <\/scp>\n                    Gene: A 7\u2010Year Follow\u2010Up With Clinical, Genetic, and\n                    <scp>ACMG<\/scp>\n                    Insights in an Iranian Family"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"first","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamed","family":"Hesami","sequence":"additional","affiliation":[{"name":"Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza Shervin","family":"Badv","sequence":"additional","affiliation":[{"name":"Children's Medical Centre, Pediatrics Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Rabbani","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, School of Dentistry Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4966-6658","authenticated-orcid":false,"given":"Zahra","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Pediatrics Center of Excellence, Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohreh","family":"Hosseinkhani","sequence":"additional","affiliation":[{"name":"Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sedighe","family":"Nikbakht","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Pediatrics Center of Excellence, Children's Medical Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameneh","family":"Sharifi","sequence":"additional","affiliation":[{"name":"Growth and Development Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahman","family":"Akbari","sequence":"additional","affiliation":[{"name":"Sleep Disorders Research Center Kermanshah University of Medical Sciences  Kermanshah Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siamak","family":"Mirab Samiee","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8614-1538","authenticated-orcid":false,"given":"Nejat","family":"Mahdieh","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center Rajaie Cardiovascular Institute  Tehran Iran"},{"name":"Fetal and Pediatric Cardiovascular Research Center, Children's Medical Center Tehran University of Medical Sciences  Tehran 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