Article
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Clinical genetics - 1 Feb 2014
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
Abstract excerpt
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...
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