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Diagnostic criteria were proposed in 2007 based on 50 cases, but KBG syndrome remains underdiagnosed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing (WES) and array comparative genomic hybridization (array CGH) were conducted for genetic analysis and patient phenotypes were characterized based on medical records.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight patients from seven unrelated families were confirmed with KBG syndrome. All patients (8\/8, 100%) had some degree of craniofacial dysmorphism and developmental delay or intellectual disabilities. Triangular face, synophrys, anteverted nostril, prominent ears, long philtrum, and tented upper lip, which are typical facial dysmorphism findings in patients with KBG syndrome, were uniformly identified in the eight patients participating in this study, with co\u2010occurrence rates of 4\/8 (50%), 4\/8 (50%), 4\/8 (50%), 4\/8 (50%), 5\/8 (62.5%), and 5\/8 (62.5%), respectively. Various clinical manifestations not included in the diagnostic criteria were observed. Six patients had point mutations in <jats:italic>ANKRD11<\/jats:italic>, one had an exonic deletion of <jats:italic>ANKRD11<\/jats:italic>, and one had a 16q24.3\u00a0microdeletion. According to the ACMG guidelines, all mutations were classified as pathogenic. The c.2454dup (p.Asn819fs*1) mutation in Pt 4 was reported previously. The remaining variants (c.397\u2009+\u20091G&gt;A, c.226\u2009+\u20091G&gt;A, c.2647del (p.Glu883Argfs*94), and c.4093C&gt;T (p.Arg1365Ter)) were novel.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The clinical and molecular features of eight patients from seven unrelated Korean families with KBG syndrome described here will assist physicians in understanding this rare genetic condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2127","type":"journal-article","created":{"date-parts":[[2022,12,24]],"date-time":"2022-12-24T06:55:17Z","timestamp":1671864917000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature"],"prefix":"10.1002","volume":"11","author":[{"given":"Yunha","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, CHA Bundang Medical Center CHA University  Seongnam South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jungmin","family":"Choi","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center University of Ulsan College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyosang","family":"Do","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center University of Ulsan College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soojin","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center Children's Hospital University of Ulsan College of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[{"name":"3billion Inc.  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