{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T01:52:52Z","timestamp":1784425972135,"version":"3.55.0"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T00:00:00Z","timestamp":1499731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin\u2010Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in <jats:italic>KAT6B<\/jats:italic>, c.4572dupT, p.(Thr1525Tyrfs*16). The second patient was ascertained as possible LGS, but <jats:italic>KAT6B<\/jats:italic> mutation testing was pursued clinically after the identification of the <jats:italic>KAT6B<\/jats:italic> mutation in Patient 1, and identified a de novo mutation, c.4205_4206delCT, p.(Ser1402Cysfs*5). The phenotypic spectrum of <jats:italic>KAT6B<\/jats:italic> mutations has been expanding since identification of <jats:italic>KAT6B<\/jats:italic> mutations in genitopatellar syndrome (GPS) and Say Barber Biesecker Young Simpson (SBBYS) syndrome patients. We show that craniosynostosis, which has not been previously reported in association with <jats:italic>KAT6B<\/jats:italic> mutations, may be part of the genitopatellar\/Say Barber Biesecker Young Simpson spectrum. These two patients also further demonstrate the overlapping phenotypes of genitopatellar and SBBYS syndromes recently observed by others. Furthermore, we propose that it is possible that one or more of the previous cases of LGS may have also been due to mutation in <jats:italic>KAT6B<\/jats:italic>, and that LGS may actually be a variant within the <jats:italic>KAT6B<\/jats:italic> spectrum and not a distinct clinical entity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38355","type":"journal-article","created":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T10:46:59Z","timestamp":1499770019000},"page":"2596-2604","source":"Crossref","is-referenced-by-count":17,"title":["Lin\u2010Gettig syndrome: Craniosynostosis expands the spectrum of the <i>KAT6B<\/i> related disorders"],"prefix":"10.1002","volume":"173","author":[{"given":"Rani A.","family":"Bashir","sequence":"first","affiliation":[{"name":"Department of Pediatrics Section of Neonatal\u2010Perinatal Medicine University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhijit","family":"Dixit","sequence":"additional","affiliation":[{"name":"Clinical Genetics City Campus Nottingham University Hospitals NHS Trust Nottingham United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Goedhart","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian S.","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care for Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shabih U.","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Section of Neonatal\u2010Perinatal Medicine University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-7217","authenticated-orcid":false,"given":"Ping\u2010Yee B.","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Calgary Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,7,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.017"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37684"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.131"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555"},{"key":"e_1_2_7_6_1","unstructured":"CampeauPM BrendanLH.2012. 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