{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:27:58Z","timestamp":1774542478625,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"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":[[2019,2]]},"abstract":"<jats:p>Say\u2013Barber\u2013Biesecker\u2013Young\u2013Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by <jats:italic>KAT6B<\/jats:italic> truncating variants. Because of both syndromes often share common features the associated phenotypes are usually grouped under the term \u201c<jats:italic>KAT6B<\/jats:italic>\u2010related disorders.\u201d However, particular signs of each syndrome have been reported and their appearance seems to be dependent on where the <jats:italic>KAT6B<\/jats:italic> variant is located. Thus, whereas truncating variants associated with SBBYSS have their highest density in the distal part of exon 18, those resulting in GTPTS are distributed between the end of exon 17 and beginning of exon 18. Here, we reported two de novo heterozygous <jats:italic>KAT6B<\/jats:italic> truncating variants. The first variant (c.5802delA; p.A1935Pfs*16), identified in a boy with SSBYSS phenotype, resulting in the most distal <jats:italic>KAT6B<\/jats:italic> truncating variant reported up\u2010to\u2010date in the scientific literature. The second variant (c.3152delG; p.S1051Tfs*63), located in a region hitherto defined as specific of SBBYSS, seems to cause an overlapping SBBYSS\/GTPTS phenotype. The clinical and genetic characterization of these patients could contribute to the understanding of the <jats:italic>KAT6B<\/jats:italic>\u2010related disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.60689","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T08:10:16Z","timestamp":1545293416000},"page":"290-294","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel truncating variants expand the phenotypic spectrum of <i>KAT6B<\/i>\u2010related disorders"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1527-471X","authenticated-orcid":false,"given":"Alejandro","family":"Brea\u2010Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica Universidad de Santiago de Compostela, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Dacruz","sequence":"additional","affiliation":[{"name":"Complexo Hospitalario Universitario de Santiago de Compostela Unidad de Neurolog\u00eda Pedi\u00e1trica, Departamento de Pediatr\u00eda  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jes\u00fas","family":"Eir\u00eds","sequence":"additional","affiliation":[{"name":"Complexo Hospitalario Universitario de Santiago de Compostela Unidad de Neurolog\u00eda Pedi\u00e1trica, Departamento de Pediatr\u00eda  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Barros","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica Universidad de Santiago de Compostela, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Santiago de Compostela Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica\u2010SERGAS  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngel","family":"Carracedo","sequence":"additional","affiliation":[{"name":"Grupo de Medicina Xen\u00f3mica Universidad de Santiago de Compostela, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)  Santiago de Compostela Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica\u2010SERGAS  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22141"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2014.09.001"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.248"},{"key":"e_1_2_7_6_1","article-title":"Say\u2010barber\u2010Biesecker\u2010young\u2010Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?","author":"Lonardo F.","year":"2017","journal-title":"Clinical 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