Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Poirier, Karine; Saillour, Yoann; Fourniol, Franck J.; Francis, Fiona; Souville, Isabelle; Valence, Stéphanie; Desguerre, Isabelle; Lepage, Jean Marie; Boddaert, Nathalie; Jacquemont, Marine Line; Beldjord, Chérif; Chelly, Jamel; Bahi‐Buisson, Nadia

doi:10.1038/ejhg.2012.195

Cited by 58 publications

(53 citation statements)

References 30 publications

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“…5,10 Mutations in the TUBA1A gene have been associated with various grades of lissencephaly, ranging from the complete loss of gyri and sulci (agyria) to simplified abnormally thick convolutions (pachygyria), and perisylvian polymicrogyria (PMG). [11][12][13][14][15][16][17][18][19] Mutations in the TUBB2B gene have been associated with bilateral, asymmetrical PMG 20 and schizencephaly 21 as well as symmetrical PMG and pachygyria. 22,23 Axon guidance disorders (corpus callosum abnormalities and hypoplasia of the oculomotor nerves) and cortical malformations (PMG and gyral disorganization) have been found in individuals carrying defects in the TUBB3 gene.…”

Section: Discussionmentioning

confidence: 99%

Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases

Romaniello

Arrigoni

Cavallini

et al. 2014

Develop Med Child Neuro

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ABBREVIATIONS MCDsMalformations of cortical development PMG Polymicrogyria AIM The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical development (MCDs) of unknown origin.METHOD In total, 79 out of 156 patients (41 males, 38 females; age range 8mo-55y (mean age 13y 3mo, SD 11y 2mo) with a neuroradiological diagnosis of MCDs were enrolled in the study. The 77 excluded patients were excluded for the following reasons: suspected or proven diagnosis of pre-or perinatal ischaemic insult (n=13); syndromic disease (n=10); congenital infection (n=14); pregnancy complicated by twin-to-twin transfusion syndrome (n=2); proven mutations in known genes (n=13); poor magnetic resonance imaging (MRI) quality, or lack of informed consent (n=25). A genetic analysis of the TUBA1A, TUBB2B and TUBB3 genes was carried out by direct sequencing of the coding regions of the relevant genes for each participant. Previously described patients with mutations in the TUBB2B and TUBA1A genes were reviewed; clinical and neuroradiological findings were compared and discussed.RESULTS Two novel heterozygous mutations were detected: a heterozygous mutation in exon 4 of the TUBA1A gene (c.1160C>T) in a 5-year-old female with microcephaly, severe intellectual disability, and absence of language, and a c.1080 _1084del CCTGAinsACATCTTC in exon 4 of the TUBB2B gene in a 31-year-old female with microcephaly, spastic tetraparesis, severe intellectual disability, and scoliosis. Different types of cortical abnormalities, cerebellar vermis hypoplasia, and optic nerve hypoplasia/atrophy were detected on MRI. Dysmorphisms of the basal ganglia and the hippocampi with abnormalities of the midline commissural structures were present in both cases. INTERPRETATIONThe consistent presence of hypoplastic and disorganized white matter tracts suggests that, in addition to defects in neuronal migration, disruption of axon growth and guidance is a peculiar feature of tubulin-related disorders.

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Section: Discussionmentioning

confidence: 99%

Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases

Romaniello

Arrigoni

Cavallini

et al. 2014

Develop Med Child Neuro

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“…Recent work, however, has shown that all of the six grades of classic lissencephalies (Table 1) are caused by mutations of genes encoding tubulins ( primarily TUBA1A) (Poirier et al 2007) or proteins that function in conjunction with microtubules (microtubule-associated proteins or MAPs, such as DCX, LIS1, cytoplasmic dynein, kinesins, NudE) (Dobyns et al 1993;Gleeson et al 1998;Toyo-oka et al 2003;Lecourtois et al 2010;Cushion et al 2013;Poirier et al 2013). As mutations of genes encoding tubulins and MAPs are associated with, and likely responsible for, other MCDs (such as heterotopia and polymicrogyria [PMG]-like cortex) (Poirier et al , 2012Guerrini et al 2012;Cushion et al 2013), one might consider altering the classification to make malformations secondary to mutations of tubulin and MAP genes as a major category of MCD with classic lissencephalies as a subcategory. It will be interesting to determine what differences are seen in the mutations of genes coding for MAPs as compared with those coding for the tubulins themselves.…”

Section: Malformations Secondary To Tubulin and Microtubule-associatementioning

confidence: 99%

Malformations of Cortical Development and Epilepsy

Barkovich

Dobyns²,

Guerrini

2015

Cold Spring Harbor Perspectives in Medicine

113

108

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Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.

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“…This cyclic process is essential because mice lacking TTL are perinatal lethal (16). Furthermore, mutations in ␣-tubulin residues that are engaged in the tubulin-TTL interface are linked to neurodevelopmental disorders (17,18). Tyrosinated ␣-tubulin dimers are incorporated in polymerizing microtubules, therefore often marking the dynamic plus end of microtubules, which are decorated by microtubule plus end tracking proteins (ϩTIPs) (10,11,19).…”

mentioning

confidence: 99%

Tubulin-tyrosine Ligase (TTL)-mediated Increase in Tyrosinated α-Tubulin in Injured Axons Is Required for Retrograde Injury Signaling and Axon Regeneration

Song¹,

Cho²,

Watt

et al. 2015

Journal of Biological Chemistry

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Background: Axon regeneration following nerve injury depends on retrograde injury signals. Results: An increased tyrosinated ␣-tubulin level at the injury site is required for the retrograde transport of injury signals and timely activation of a pro-regenerative program. Conclusion: An injury-induced increase in tyrosinated ␣-tubulin is important for axon regeneration. Significance: Deciphering the mechanisms regulating the retrograde transport of injury signals is crucial for our understanding of regenerative mechanisms in peripheral neurons.

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

Cited by 58 publications

References 30 publications

Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases

Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases

Malformations of Cortical Development and Epilepsy

Tubulin-tyrosine Ligase (TTL)-mediated Increase in Tyrosinated α-Tubulin in Injured Axons Is Required for Retrograde Injury Signaling and Axon Regeneration

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