ArticleJournal of human genetics2021
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Tubulin autoregulation mediator TTC5 regulates neuronal morphology and migration.bioRxiv : the preprint server for biology · 2026Article
- Soluble αβ-tubulins reversibly sequester TTC5 to regulate tubulin mRNA decay.Nature communications · 2024Article
- Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.Scientific reports · 2024Article
- TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.American journal of medical genetics. Part A · 2022Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
Brain malformations have heterogeneous genetic backgrounds. Tubulinopathies are a wide range of brain malformations caused by variants in tubulin and microtubules-associated genes. Recently biallelic variants in TTC5, also known as stress responsive activator of p300, have been reported in 11 patients from seven families with developmental delay, intellectual disability, and brain malformations. Here, we report compound heterozygous frameshift variants in TTC5 in a Japanese boy who showed severe psychomotor developmental delay and pseudobulbar palsy with growth failure. Brain magnetic resonance imaging showed a simplified gyral pattern and undetectable anterior limb of the internal capsule, suggesting tubulinopathies. Immunoblotting using lymphoblastoid cells derived from the patient showed undetectable TTC5 protein. Ttc5 silencing by RNA interference in Neuro2a cells reduced Tubulin β3 protein level and caused abnormal cell cycle. Our report suggests a possible link between TTC5-related brain malformation and tubulinopathies.
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