These authors contributed equally to this work.
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Article first published online: 24 APR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 2, pages 178–183, February 2014
How to Cite
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. and Jansen, A.C. (2014), Polymicrogyria with dysmorphic basal ganglia? Think tubulin!. Clinical Genetics, 85: 178–183. doi: 10.1111/cge.12141
The authors declare no conflict of interest.
- Issue published online: 13 JAN 2014
- Article first published online: 24 APR 2013
- Accepted manuscript online: 15 MAR 2013 11:42AM EST
- Manuscript Revised: 11 MAR 2013
- Manuscript Accepted: 11 MAR 2013
- Manuscript Received: 23 DEC 2012
- Réseau de Médecine génétique appliquée
- UZ Brussel Onderzoeksraad
- basal ganglia;
- corpus callosum;
- malformations of cortical development;
Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in TUBB2B by Sanger sequencing. We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B 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 TUBB2B and provides further insight in how mutations in TUBB2B affect protein function.