Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. We show an association between bilateral asymmetrical polymicrogyria and mutations in a -tubulin gene, , in four patients and a 27 GW (gestational week) fetus. de novo β TUBB2B Neuropathological examina...
متن کاملAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Microtubules are essential components of axon guidance machinery. Among β-tubulin mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All identified mutations in TUBB2B result in polymicrogyria, but it remains unclear whether TUBB2B mutations can cause axon dysinnervation as a primary phenotype. We have identified a novel inherited heterozygous missense muta...
متن کاملOverlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns. They can be associated with additional structural cerebral anomalies, and recurrent phenotypic patterns have led to identification of recognizable syndromes. The lissencephalies are usually single-gene disorders affecting neuronal migrat...
متن کاملMutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
The formation of the mammalian cortex requires the generation, migration, and differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these cellular processes is reflected by the discovery that mutations in various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (TUBA1A), polymicrogyria (TUBA1A, TUBB2B, TUBB3), and an ocular mo...
متن کاملPolymicrogyria with dysmorphic basal ganglia? Think tubulin!
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 f...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2009
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.380