{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T05:50:01Z","timestamp":1789624201537,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,4,24]],"date-time":"2013-04-24T00:00:00Z","timestamp":1366761600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>Dominant mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic> have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic>. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic> by Sanger sequencing. We identified two novel <jats:italic>de novo<\/jats:italic> mutations, c.743C&gt;T (p.<jats:styled-content style=\"fixed-case\">Ala248Val<\/jats:styled-content>) and c.1139G&gt;T (p.<jats:styled-content style=\"fixed-case\">Arg380Leu<\/jats:styled-content>) in exon 4 of <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic> in three unrelated families. Brain magnetic resonance images showed polymicrogyria involving predominantly the perisylvian regions. In addition, there was a dysmorphic appearance of the basal ganglia, thin corpus callosum, enlargement of the ventricles, thinning of the white matter and hypoplasia of pons and cerebellar vermis. This combination of associated features was absent in all 17 patients with polymicrogyria in whom no mutation was identified. This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic> and provides further insight in how mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TUBB2B<\/jats:styled-content><\/jats:italic> affect protein function.<\/jats:p>","DOI":"10.1111\/cge.12141","type":"journal-article","created":{"date-parts":[[2013,3,15]],"date-time":"2013-03-15T22:36:07Z","timestamp":1363386967000},"page":"178-183","source":"Crossref","is-referenced-by-count":32,"title":["Polymicrogyria with dysmorphic basal ganglia? 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