ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2019
Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 9 citations in OpenAlex.
- Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.Neurogenetics · 2025Article
- A Variant inInternational journal of molecular sciences · 2023Article
- Article
- Novel Compound Heterozygous Variants inChildren (Basel, Switzerland) · 2021Article
- The synaptic life of microtubules.Current opinion in neurobiology · 2021Review
- Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.Child neurology openArticle
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7 authors at 3 institutions in 1 country.
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Abstract
backgroundMicrotubule dynamics is crucial for neuronal function and survival. The disrupted function of microtubule dynamics would lead to neurodegenerative and neurodevelopmental disorders. Tubulin-specific chaperone D (TBCD) is one of five tubulin co-chaperones acted in assembly and disassembly dynamics of microtubule. The biallelic pathogenic variants of TBCD gene were reported to be associated with severe degenerative encephalopathy accompanied with seizures previously.
resultsCompound heterozygous variants were identified in three patients from three families. The in silico prediction software and ACMG standards and guidelines proved the pathogenicity of the TBCD pathogenic variants. The clinical features of the three patients presented with mild neurodevelopmental manifestations including autism spectrum disorder (ASD) and occasional generalized tonic-clonic seizures (GTCSs) responding well to antiepileptic drugs.
conclusionOur research expanded the clinical spectrum of TBCD-related neurodevelopmental disease which contributed to understanding the genotype-phenotype correlations of the disease.
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