{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:45Z","timestamp":1764172185378},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Dart Neuroscience LLC"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label \/><jats:p>As genome wide techniques become more common, an increasing proportion of patients with intellectual disability (ID) are found to have genetic defects allowing genotype\u2013phenotype correlations. Previously, <jats:italic>AKT3<\/jats:italic> deletion was suggested to be responsible for microcephaly in patients with 1q43\u2010q44 deletion syndrome, but this does not correspond to all cases. We report a case of a de novo 1q44 deletion in an 8\u2010year\u2010old boy with microcephaly in whom <jats:italic>AKT3<\/jats:italic> is not deleted. We used a systematic review of the literature, our patient, and network analysis to gain a better understanding of the genetic basis of microcephaly in 1q deletion patients. Our analysis showed that while <jats:italic>AKT3<\/jats:italic> deletion is associated with more severe (\u22643\u2009SD) microcephaly in 1q43\u2010q44 deletion patients, other genes may contribute to microcephaly in <jats:italic>AKT3<\/jats:italic> intact patients with microcephaly and 1q43\u201044 deletion syndrome. We identified a potential role for <jats:italic>HNRNPU, SMYD3, NLRP3<\/jats:italic>, and <jats:italic>KIF26B<\/jats:italic> in microcephaly. Overall, our study highlights the need for network analysis and quantitative measures reporting in the phenotypic analysis of a complex genetic syndrome related to copy number variation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38139","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"972-977","source":"Crossref","is-referenced-by-count":15,"title":["Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly"],"prefix":"10.1002","volume":"173","author":[{"given":"Nicholas","family":"Raun","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology University of Alberta Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janette","family":"Mailo","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology University of Alberta Edmonton Alberta 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