{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:02:37Z","timestamp":1761102157525,"version":"3.40.4"},"reference-count":42,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015]]},"abstract":"<jats:p>Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the &lt;i&gt;NSD1&lt;\/i&gt; gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS. Recently, mutations and possible pathogenetic rare CNVs, both affecting a few candidate genes for overgrowth, have been reported in patients with Sotos-like overgrowth features. To estimate the frequency of &lt;i&gt;NSD1&lt;\/i&gt; defects in the Brazilian SoS population and possibly reveal other genes implicated in the etiopathogenesis of this syndrome, we collected a cohort of 21 Brazilian patients, who fulfilled the diagnostic criteria for SoS, and analyzed the &lt;i&gt;NSD1&lt;\/i&gt; and &lt;i&gt;PTEN&lt;\/i&gt; genes by means of multiplex ligation-dependent probe amplification and mutational screening analyses. We identified a classical &lt;i&gt;NSD1&lt;\/i&gt; microdeletion, a novel missense mutation (p.C1593W), and 2 previously reported truncating mutations: p.R1984X and p.V1760Gfs*2. In addition, we identified a novel de novo &lt;i&gt;PTEN&lt;\/i&gt; gene mutation (p.D312Rfs*2) in a patient with a less severe presentation of SoS phenotype, which did not include pre- and postnatal overgrowth. For the first time, our study implies &lt;i&gt;PTEN&lt;\/i&gt; in the pathogenesis of SoS and further emphasizes the existence of ethno-geographical differences in &lt;i&gt;NSD1&lt;\/i&gt; molecular alterations between patients with SoS from Europe\/North America (70-93%) and those from South America (10-19%).<\/jats:p>","DOI":"10.1159\/000370169","type":"journal-article","created":{"date-parts":[[2015,1,21]],"date-time":"2015-01-21T08:05:12Z","timestamp":1421827512000},"page":"32-38","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome"],"prefix":"10.1159","volume":"6","author":[{"given":"Gustavo H.","family":"Vieira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa M.","family":"Cook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata L.","family":"Ferreira De Lima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos E.","family":"Frig\u00e9rio Domingues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel R.","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaias","family":"Soares de Paiva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danilo","family":"Moretti-Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anand 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