{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T04:06:15Z","timestamp":1776830775082,"version":"3.51.2"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>AKT3<\/jats:italic> (v\u2010akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member of the protein kinase B (PKB) family. This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. Phenotype and genotype studies of patients with 1q44 deletion syndrome have suggested that deletion of the <jats:italic>AKT3<\/jats:italic> gene is responsible for the microcephaly in these patients. However, the phenotype of pure <jats:italic>AKT3<\/jats:italic> deletion has not been studied.<\/jats:p><jats:p>We report on a 1q44 deletion involving only <jats:italic>AKT3<\/jats:italic> in a boy and his father. The boy has microcephaly, hypotonia, feeding difficulties, developmental delay, and minor dysmorphic features. His father does not have microcephaly and is of normal intelligence. We also analyzed the available information on the phenotypes of 13 individuals carrying a pure <jats:italic>AKT3<\/jats:italic> gene deletion identified through literature review and database search. To our knowledge, this is the first report of a paternally inherited pure <jats:italic>AKT3<\/jats:italic> deletion with full clinical description. This is also the first report to suggest that (1) <jats:italic>AKT3<\/jats:italic> deletion is associated with microcephaly and intellectual disability with incomplete penetrance; (2) a pure <jats:italic>AKT3<\/jats:italic> deletion is likely to be inherited in contrast to the larger 1q44 deletions, which are mostly de novo and (3) there seems to be no consistent or characteristic dysmorphism associated with pure <jats:italic>AKT3<\/jats:italic> deletion. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36710","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T21:03:14Z","timestamp":1416949394000},"page":"174-179","source":"Crossref","is-referenced-by-count":31,"title":["Phenotypes of <i>AKT3<\/i> deletion: A case report and literature review"],"prefix":"10.1002","volume":"167","author":[{"given":"Dayu","family":"Gai","sequence":"first","affiliation":[{"name":"Royal Melbourne Hospital Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Haan","sequence":"additional","affiliation":[{"name":"South Australian Clinical Genetics Service SA Pathology (at Women's and Children's Hospital) North Adelaide South Australia Australia"},{"name":"School of Paediatrics and Reproductive Health University of Adelaide Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Scholar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Flinders Medical Centre Bedford Park South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jillian","family":"Nicholl","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Women's and Children's Hospital North Adelaide South Australia 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