{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:44Z","timestamp":1761102224291,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2016,11,5]],"date-time":"2016-11-05T00:00:00Z","timestamp":1478304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,11,5]],"date-time":"2016-11-05T00:00:00Z","timestamp":1478304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>Say-Barber\/Biesecker\/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies\/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Previous genetic testing (array-CGH, 22q11 deletion, &lt;i&gt;PTPN11&lt;\/i&gt; and &lt;i&gt;MLL2 &lt;\/i&gt;mutation analysis) gave normal results. We performed whole-exome sequencing (WES) and identified a heterozygous nonsense mutation in the &lt;i&gt;KAT6B&lt;\/i&gt; gene, NM_001256468.1: c.4943C&gt;G (p.S1648*). The mutation led to a premature stop codon and occurred de novo. &lt;i&gt;KAT6B&lt;\/i&gt; sequence variants have previously been identified in patients with SBBYSS, and the phenotype of the girl is similar to other patients diagnosed with SBBYSS. This case report provides additional evidence for the correlation between the &lt;i&gt;KAT6B&lt;\/i&gt; mutation and SBBYSS. If a patient is suspected of having a blepharophimosis syndrome or SBBYSS, we recommend sequencing the &lt;i&gt;KAT6B&lt;\/i&gt; gene. This is a further example showing that WES can assist diagnosis.<\/jats:p>","DOI":"10.1159\/000452258","type":"journal-article","created":{"date-parts":[[2016,11,4]],"date-time":"2016-11-04T22:01:24Z","timestamp":1478296884000},"page":"24-29","source":"Crossref","is-referenced-by-count":5,"title":["De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber\/Biesecker\/Young-Simpson Syndrome"],"prefix":"10.1159","volume":"8","author":[{"given":"Malene","family":"Lundsgaard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vang Q.","family":"Le","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"Ernst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans C.","family":"Laugaard-Jacobsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten","family":"Rasmussen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inge S.","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,11,5]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/452258","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/452258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/452258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:20:21Z","timestamp":1745428821000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000452258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,5]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,1,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000452258","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2016,11,5]]}}}