Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

Okumura, Akihisa; Hayashi, Masaharu; Tsurui, Hiromichi; Yamakawa, Yoko; Abe, Shinpei; Kudo, Takahiro; Suzuki, Ryuyo; Shimizu, Toshiaki; Shimojima, Keiko; Yamamoto, Toshiyuki

doi:10.1016/j.braindev.2012.05.006

Cited by 38 publications

(16 citation statements)

References 13 publications

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“…The p.Ala387Val substitution is located in an exposed a-helix at the C-terminus. Similar to the predicted effects of the substitution of a close residue, Arg-390, 15 the p.Ala387Val substitution may affect the interaction with microtubule-associated protein or motor proteins by modifying a relevant protein-protein interface.…”

Section: Discussionmentioning

confidence: 76%

“…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%

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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: 76%

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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show abstract

“…11,12 One of the first reported clinical finding associated with congenital olfactory anomalies was isolated hypogonadotropic hypogonadism with absent or incomplete puberty, usually in males, in the setting of Kallmann syndrome. The gonadotropin receptors migrate along the olfactory tracts in the early fetus, explaining the association between low follicular stimulating and luteinizing hormones and absent olfactory bulbs and tracts.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

Booth

Rollins

2016

American Journal of Neuroradiology

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“…The most consistent feature of lissencephaly due to TUBA1A mutation is severe cerebellar and brainstem abnormalities. Other characteristics include dysmorphic basal ganglia with hypoplastic internal capsule, callosal hypoplasia, and microcephaly, as seen in this case [1, 2]. Recently, mutations in the neuronally expressed tubulin genes have been reported to cause a spectrum of overlapping cortical malformations ranging from lissencephaly to polymicrogyria, and categorized as “tubulinopathy” [3].…”

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confidence: 98%

DTI tractography of lissencephaly caused by TUBA1A mutation

et al. 2014

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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

Cited by 38 publications

References 13 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

Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies

DTI tractography of lissencephaly caused by TUBA1A mutation

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