{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:36:05Z","timestamp":1770816965589,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the <jats:italic>KAT6B<\/jats:italic> gene located on chromosome 10q22.2. <jats:italic>KAT6B<\/jats:italic> encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in <jats:italic>KAT6B<\/jats:italic> (<jats:italic>KAT6B<\/jats:italic>\u2010related disorders) comprise two allelic entities: SBBYSS variant of Ohdo syndrome and genitopatellar syndrome (GPS). Increase in the number of cases with overlapping GPS\/SBBYSS phenotype which makes it necessary to redefine this group of phenotypes as <jats:italic>KAT6B<\/jats:italic>\u2010related disorders or <jats:italic>KAT6B<\/jats:italic> spectrum disorders.<\/jats:p><jats:p>Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs\/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia\/agenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here we report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel <jats:italic>KATB6<\/jats:italic> pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We present a detailed phenotypic analysis of six individuals with <jats:italic>KAT6B<\/jats:italic>\u2010related disorders, in whom a heterozygous pathogenic variant in <jats:italic>KAT6B<\/jats:italic> gene was found. In all of our patients facial dysmorphism as well as developmental and speech delay were present. Additionally, all but one patients presented with hypotonia, ocular abnormalities and long thumbs. Most of our probands showed blepharophimosis and skeletal (mainly knee) defects. Contrary to previously reported severe patellar defects (hypoplasia\/agenesis) anomalies presented by our patients were less severe (dysplasia, habitual dislocation, subluxation) referring to KAT6B\u2010related disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2265","type":"journal-article","created":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T05:40:27Z","timestamp":1693633227000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical heterogeneity of polish patients with <i>KAT6B<\/i>\u2013related disorder"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5738-8526","authenticated-orcid":false,"given":"Klaniewska","family":"Magdalena","sequence":"first","affiliation":[{"name":"Department of Family and Pediatric Nursing Medical University of Wroclaw  Wroclaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bolanowska\u2010Tyszko","family":"Anna","sequence":"additional","affiliation":[{"name":"Department of Radiology 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