Polymicrogyria with dysmorphic basal ganglia? Think tubulin!. (24th April 2013)

• Record Type: Journal Article
• Authors: Amrom, D.; Tanyalçin, I.; Verhelst, H.; Deconinck, N.; Brouhard, G.J.; Décarie, J.‐C.; Vanderhasselt, T.; Das, S.; Hamdan, F.F.; Lissens, W.; Michaud, J.L.; Jansen, A.C.
• Is Part Of: Clinical genetics. Volume 85:Number 2(2014:Feb.)
• Page Start: 178
• Page End: 183
• Publication Date: 2013-04-24
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12141
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Dominant mutations in <italic>TUBB2B</italic> have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in <italic>TUBB2B</italic>. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in <italic>TUBB2B</italic> by Sanger sequencing. We identified two novel <italic>de novo</italic> mutations, c.743C&gt;T (p.Ala248Val) and c.1139G&gt;T (p.Arg380Leu) in exon 4 of <italic>TUBB2B</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 <italic>TUBB2B</italic> and provides further insight in how mutations in <italic>TUBB2B</italic> affect protein function.</p> </abstract>