{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:18:54Z","timestamp":1770815934991,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,9,29]],"date-time":"2016-09-29T00:00:00Z","timestamp":1475107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008530","name":"ERDF","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>Say\u2013Barber\u2013Biesecker\u2013Young\u2013Simpson syndrome (<jats:styled-content style=\"fixed-case\">SBBYSS<\/jats:styled-content>) and genitopatellar syndrome (<jats:styled-content style=\"fixed-case\">GTPTS<\/jats:styled-content>) are clinically similar disorders with some overlapping features. Although they are currently considered to be distinct clinical entities, both were found to be caused by <jats:italic>de novo<\/jats:italic> truncating sequence variants in the <jats:italic><jats:styled-content style=\"fixed-case\">KAT6B<\/jats:styled-content><\/jats:italic> (lysine acetyltransferase <jats:styled-content style=\"fixed-case\">6B<\/jats:styled-content>) gene, strongly suggesting that they are allelic disorders. Herein, we report the clinical and genetic findings in a girl presenting with a serious multiple congenital anomaly syndrome with phenotypic features overlapping both <jats:styled-content style=\"fixed-case\">SBBYSS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">GTPTS<\/jats:styled-content>; pointing out that the clinical distinction between these disorders is not exact and there do exist patients, in whom conventional clinical classification is problematic. Genetic analyses revealed a truncating c.<jats:styled-content style=\"fixed-case\">4592delA<\/jats:styled-content> (p.Asn1531Thr<jats:italic>fs<\/jats:italic>*18) variant in the last <jats:italic>KAT6B<\/jats:italic> exon. Our findings support that phenotypes associated with typical <jats:italic>KAT6B<\/jats:italic> disease\u2010causing variants should be referred to as \u2018KAT6B spectrum disorders\u2019 or \u2018KAT6B related disorders\u2019, rather than their current SBBYSS and GTPTS classification.<\/jats:p>","DOI":"10.1111\/cge.12840","type":"journal-article","created":{"date-parts":[[2016,7,25]],"date-time":"2016-07-25T10:26:45Z","timestamp":1469442405000},"page":"339-343","source":"Crossref","is-referenced-by-count":27,"title":["Complex phenotypes blur conventional borders between Say\u2013Barber\u2013Biesecker\u2013Young\u2013Simpson syndrome and genitopatellar syndrome"],"prefix":"10.1111","volume":"91","author":[{"given":"J.","family":"Radvanszky","sequence":"first","affiliation":[{"name":"Institute for Clinical and Translational Research Biomedical Research Centre, Slovak Academy of Sciences  Bratislava Slovakia"},{"name":"Department of Molecular Biology, Faculty of Natural Sciences Comenius University  Bratislava Slovakia"},{"name":"Geneton s.r.o.  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hyblova","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Natural Sciences Comenius University  Bratislava Slovakia"},{"name":"Geneton s.r.o.  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Durovcikova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Slovak Medical University  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hikkelova","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Alphamedical s.r.o.  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Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Szemes","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Natural Sciences Comenius University  Bratislava Slovakia"},{"name":"Geneton s.r.o.  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,9,29]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.8.511-a"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.11.715"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.131"},{"key":"e_1_2_3_5_1","first-page":"91","article-title":"A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes","volume":"2","author":"Goldblatt J","year":"1988","journal-title":"Dysmorph Clin Genet"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.008"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22141"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.023"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.248"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.09.004"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.024"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.163"},{"key":"e_1_2_3_13_1","first-page":"71","article-title":"De novo 10q22 interstitial deletion","volume":"36","author":"Cook L","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI43428"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37343"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12840","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12840","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12840","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T08:05:47Z","timestamp":1694505947000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,29]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1111\/cge.12840"],"URL":"https:\/\/doi.org\/10.1111\/cge.12840","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,29]]}}}