{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:57Z","timestamp":1783012677691,"version":"3.54.6"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["64203"],"award-info":[{"award-number":["64203"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NU21\u201007\u201000419"],"award-info":[{"award-number":["NU21\u201007\u201000419"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The AKT2\u2010related hypoinsulinemic hypoglycemia and overgrowth syndrome was initially described over 30\u2009years ago as MORFAN syndrome which was an acronym for Mental retardation, pre\u2010 and post\u2010natal Overgrowth, Remarkable Face, and Acanthosis Nigricans. Despite the limited possibility of confirming a diagnosis on the molecular level at that time, a comprehensive 30\u2010year follow\u2010up of a patient facilitated a detailed exploration of the syndrome's clinical trajectory. This article presents a case report spanning three decades, highlighting the significance of detailed clinical follow\u2010up in understanding and studying this unique syndrome. Although initially associated with intellectual deficiency, the patient's intellectual abilities remain largely within the normal range. Neuropsychological examinations revealed selective neurocognitive impairment, with a predominant disruption in psychomotor speed and executive functions. Molecular genetic examination confirmed a pathogenic variant in the\n                    <jats:italic>AKT2<\/jats:italic>\n                    gene, associated with impaired insulin metabolism and increased tumorigenesis risk. Neurooncological assessments revealed intracranial meningiomatosis, emphasizing the syndrome's potential oncological implications. Surgical interventions addressed various complications, including meningiomas and renal hamartomas. The presented case offers valuable insights into the long\u2010term natural history of AKT2\u2010related hypoinsulinemic hypoglycemia and overgrowth syndrome, suggesting the importance of regular oncological surveillance due to its predisposition to tumorigenesis, thereby providing clinical considerations for future cases based on long\u2010term follow\u2010up experience.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70138","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T10:05:25Z","timestamp":1774260325000},"page":"1890-1896","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A More Precise Description of the\n                    <scp>AKT2<\/scp>\n                    \u2010Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the\n                    <scp>MORFAN<\/scp>\n                    Acronym"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9497-3919","authenticated-orcid":false,"given":"Marek","family":"Turnovec","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4532-9219","authenticated-orcid":false,"given":"Ad\u00e9la","family":"Buben\u00edkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2221-3127","authenticated-orcid":false,"given":"Ond\u0159ej","family":"R\u00fddlo","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7764-7254","authenticated-orcid":false,"given":"Petr","family":"Skalick\u00fd","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9013-2546","authenticated-orcid":false,"given":"Michal","family":"Z\u00e1potock\u00fd","sequence":"additional","affiliation":[{"name":"Department of Pediatric Haematology and Oncology, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"},{"name":"Center for Pediatric Neuro\u2010Oncology Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6228-7967","authenticated-orcid":false,"given":"Kry\u0161tof","family":"Haratek","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4730-8753","authenticated-orcid":false,"given":"Karolina","family":"Ko\u010dandrlov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"},{"name":"Department of Anthropology and Human Genetics, Faculty of Science Charles University  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-5280","authenticated-orcid":false,"suffix":"jr","given":"Milan","family":"Macek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7269-0392","authenticated-orcid":false,"suffix":"III","given":"Vladim\u00edr","family":"Bene\u0161","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"},{"name":"Center for Pediatric Neuro\u2010Oncology Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4364-5522","authenticated-orcid":false,"given":"Ond\u0159ej","family":"Brad\u00e1\u010d","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1477-8484","authenticated-orcid":false,"given":"Mark\u00e9ta","family":"Havlovicov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol and Homolka University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"issue":"1","key":"e_1_2_9_2_1","first-page":"196","article-title":"Overexpression of 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