{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T18:36:45Z","timestamp":1761676605103,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T00:00:00Z","timestamp":1512950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:label\/><jats:p><jats:italic>KAT6B<\/jats:italic> sequence variants have been identified in both patients with the Say\u2013Barber\u2013Biesecker\u2013Young\u2013Simpson syndrome (SBBYSS) and in the genitopatellar syndrome (GPS). In SBBYSS, they were reported to affect mostly exons 16\u201318 of <jats:italic>KAT6B<\/jats:italic>, and the predicted mechanism of pathogenesis was haploinsufficiency or a partial loss of protein function. Truncating variants in <jats:italic>KAT6B<\/jats:italic> leading to GPS appear to cluster within the proximal portion of exon 18, associated with a dominant\u2010negative effect of the mutated protein, most likely. Although SBBYSS and GPS have been initially considered allelic disorders with distinctive genetic and clinical features, there is evidence that they represent two ends of a spectrum of conditions referable as <jats:italic>KAT6B\u2010<\/jats:italic>related disorders. We detected a de novo truncating variant within exon 7 of <jats:italic>KAT6B<\/jats:italic> in a 8\u2010year\u2010old female who presented with mild intellectual disability, facial dysmorphisms highly consistent with SBBYSS, and skeletal anomalies including exostosis, that are usually considered component manifestations of GPS. Following the clinical diagnosis driven by the striking facial phenotype, we analyzed the <jats:italic>KAT6B<\/jats:italic> gene by NGS techniques. The present report highlights the pivotal role of clinical genetics in avoiding clear\u2010cut genotype\u2010phenotype categories in syndromic forms of intellectual disability. In addition, it further supports the evidence that a continuum exists within the clinical spectrum of <jats:italic>KAT6B<\/jats:italic>\u2010associated disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38571","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T05:38:57Z","timestamp":1512970737000},"page":"455-459","source":"Crossref","is-referenced-by-count":10,"title":["A novel truncating variant within exon 7 of <i>KAT6B<\/i> associated with features of both Say\u2013Barber\u2013Bieseker\u2013Young\u2013Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of <i>KAT6B<\/i>\u2010related disorders"],"prefix":"10.1002","volume":"176","author":[{"given":"Giuseppe","family":"Marangi","sequence":"first","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilena C.","family":"Di Giacomo","sequence":"additional","affiliation":[{"name":"U.O.C Anatomia Patologica AOR Ospedale \u201cSan Carlo\u201d Potenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena","family":"Lattante","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Orteschi","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Patrizi","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo N.","family":"Doronzio","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco N.","family":"Riviello","sequence":"additional","affiliation":[{"name":"U.O.C Anatomia Patologica AOR Ospedale \u201cSan Carlo\u201d Potenza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Vaisfeld","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. Gemelli Hospital Catholic University Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Frangella","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, A. 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