{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:35:30Z","timestamp":1792416930594,"version":"4.4.0"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T00:00:00Z","timestamp":1678838400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Overgrowth\u2010intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the molecular etiology and long\u2010term follow\u2010up findings of Turkish OGID cohort. Thirty\u2010five children with OGID were included in the study. Single gene sequencing, clinical exome analysis, chromosomal microarray analysis and whole exome sequencing were performed. Five pathogenic copy number variants were detected in the patients; three of them located on chromosome 5q35.2 (encompassing <jats:italic>NSD1<\/jats:italic>), others on 9q22.3 and 22q13.31. In 19 of 35 patients; we identified pathogenic variants in OGID genes associated with epigenetic regulation, <jats:italic>NSD1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a015), <jats:italic>HIST1H1E<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), <jats:italic>SETD1B<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), and SUZ12 (<jats:italic>n<\/jats:italic>\u00a0=\u00a02). The pathogenic variants in <jats:italic>PIK3CA<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>ABCC9<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), <jats:italic>GPC4<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a02), <jats:italic>FIBP<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01), and <jats:italic>TMEM94<\/jats:italic> (<jats:italic>n<\/jats:italic>\u00a0=\u00a01) which had a role in other growth pathways were detected in seven patients. The diagnostic yield was 31\/35(88%). Twelve pathogenic variants were novel. The common facial feature of the patients was prominent forehead. The patients with Sotos syndrome were observed to have milder intellectual disability than patients with other OGID syndromes. In conclusion, this study showed, for the first time, that biallelic variants of <jats:italic>SUZ12<\/jats:italic> caused Imagawa\u2010Matsumoto syndrome, monoallelic variants in <jats:italic>SETDIB<\/jats:italic> resulted in OGID. Besides expanded the phenotypes of very rare OGID syndromes caused by <jats:italic>FIBP<\/jats:italic> and <jats:italic>TMEM94<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63180","type":"journal-article","created":{"date-parts":[[2023,3,15]],"date-time":"2023-03-15T08:55:13Z","timestamp":1678870513000},"page":"1530-1545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["An investigation of the etiology and follow\u2010up findings in 35 children with overgrowth syndromes, including biallelic <i>SUZ12<\/i> variant"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8422-6637","authenticated-orcid":false,"given":"Aylin","family":"Y\u00fcksel \u00dclker","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpasa Medical Faculty Istanbul University\u2010Cerrahpasa  Istanbul 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