ArticleAmerican journal of human genetics2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 64 citations in OpenAlex.
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- Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.Neurogenetics · 2025Article
- Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.International journal of molecular sciences · 2023Article
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- Concurrent silencing of TBCE and drug delivery to overcome platinum-based resistance in liver cancer.Acta pharmaceutica Sinica. B · 2023Article
- A Comprehensive Review of Pediatric Acute Encephalopathy.Journal of clinical medicine · 2022Review
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- Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders inInternational journal of molecular sciences · 2022Review
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
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- Epstein-Barr virus-based plasmid enables inheritable transgene expression in mouse cerebral cortex.PloS one · 2021Article
- Construction and Validation of a Reliable Six-Gene Prognostic Signature Based on the TP53 Alteration for Hepatocellular Carcinoma.Frontiers in oncology · 2021Article
- The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.Journal of human genetics · 2020Article
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Authors and funding
33 authors at 13 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD (tubulin folding co-factor D), which is one of five tubulin-specific chaperones playing a pivotal role in microtubule assembly in all cells. A total of seven mutations were found: five missense mutations, one nonsense, and one splice site mutation resulting in a frameshift. In vitro cell experiments revealed the impaired binding between most mutant TBCD proteins and ARL2, TBCE, and β-tubulin. The in vivo experiments using olfactory projection neurons in Drosophila melanogaster indicated that the TBCD mutations caused loss of function. The wide range of clinical severity seen in this neurodegenerative encephalopathy may result from the residual function of mutant TBCD proteins. Furthermore, the autopsied brain from one deceased individual showed characteristic neurodegenerative findings: cactus and somatic sprout formations in the residual Purkinje cells in the cerebellum, which are also seen in some diseases associated with mitochondrial impairment. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of this neurodegenerative encephalopathy.
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