ArticleEuropean journal of human genetics : EJHG2013
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 63 citations in OpenAlex.
- Multilayered regulation of cytoskeletal protein abundance: autoregulatory mechanisms of actin and tubulin.Experimental & molecular medicine · 2026Review
- Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.Brain communications · 2024Review
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- How neurons maintain their axons long-term: an integrated view of axon biology and pathology.Frontiers in neuroscience · 2023Review
- Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Journal of clinical laboratory analysis · 2022Article
- Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.Journal of molecular biology · 2022Article
- Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.Molecular neurobiology · 2021Article
- Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.International journal of molecular sciences · 2020Review
- Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.Frontiers in neuroscience · 2020Article
- Review
- TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.Human molecular genetics · 2019Article
- The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.Orphanet journal of rare diseases · 2019Review
- Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.Brain sciences · 2018Article
- Comprehensive genotype-phenotype correlation in lissencephaly.Quantitative imaging in medicine and surgery · 2018Review
- The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.Frontiers in cellular neuroscience · 2018Review
- Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.International journal of molecular sciences · 2017Review
- TheJournal of developmental biology · 2017Article
- Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration.The Journal of cell biology · 2017Article
- PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.Brain : a journal of neurology · 2017Article
- CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.Endocrinology · 2016Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from lissencephaly to perisylvian pachygyria. Recently, one family with polymicrogyria (PMG) and mutation in TUBA1A was reported. Hence, the purpose of our study was to determine the frequency of TUBA1A mutations in patients with PMG and better define clinical and imaging characteristics for TUBA1A-related PMG. We collected 95 sporadic patients with non-syndromic bilateral PMG, including 54 with perisylvian PMG and 30 PMG with additional brain abnormalities. Mutation analysis of the TUBA1A gene was performed by sequencing of PCR fragments corresponding to TUBA1A-coding sequences. Three de novo missense TUBA1A mutations were identified in three unrelated patients with PMG representing 3.1% of PMG and 10% of PMGs with complex cerebral malformations. These patients had bilateral perisylvian asymmetrical PMG with dysmorphic basal ganglia cerebellar vermian dysplasia and pontine hypoplasia. These mutations (p.Tyr161His; p.Val235Leu; p.Arg390Cys) appear distributed throughout the primary structure of the alpha-tubulin polypeptide, but their localization within the tertiary structure suggests that PMG-related mutations are likely to impact microtubule dynamics, stability and/or local interactions with partner proteins. These findings broaden the phenotypic spectrum associated with TUBA1A mutations to PMG and further emphasize that additional brain abnormalities, that is, dysmorphic basal ganglia, hypoplastic pons and cerebellar dysplasia are key features for the diagnosis of TUBA1A-related PMG.
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