{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T17:46:58Z","timestamp":1773164818557,"version":"3.50.1"},"reference-count":3,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"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":[[2022]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Pathogenic variants in &lt;i&gt;HIVEP2&lt;\/i&gt; have been associated with a neurodevelopmental disorder mainly characterized by intellectual disability, severe language impairment, and motor developmental delay. Since its first description in 2016, only 15 patients have been described in the literature. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Here, we report 2 additional unrelated Portuguese children presenting intellectual disability and motor delay in whom de novo nonsense pathogenic variants in &lt;i&gt;HIVEP2&lt;\/i&gt; have been identified by next-generation sequencing analysis. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; In patient 1, the variant c.2827C&amp;#x3e;T, p.(Arg943*) was detected, whereas patient 2 carried the variant c.6667C&amp;#x3e;T, p.(Arg2223*). Interestingly, patient 1 presented with a rapid growth of the occipitofrontal diameter in the first months of life due to external hydrocephalus, a feature that, as far as we know, has never been reported in patients with &lt;i&gt;HIVEP2&lt;\/i&gt; pathogenic variants. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by comparing the clinical features of our patients with previously reported affected individuals. <\/jats:p>","DOI":"10.1159\/000521692","type":"journal-article","created":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T22:00:35Z","timestamp":1647295235000},"page":"397-401","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the Phenotypic Spectrum of &lt;b&gt;&lt;i&gt;HIVEP2&lt;\/i&gt;&lt;\/b&gt;-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature"],"prefix":"10.1159","volume":"13","author":[{"given":"Rita","family":"Quental","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana Pires","family":"Borges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,3,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1683973"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ni728"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2006.06.018"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521692","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521692","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:43:05Z","timestamp":1745422985000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000521692"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":3,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000521692","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}