ArticleOrphanet journal of rare diseases2013
Intellectual disability associated with a homozygous missense mutation in THOC6.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 55 citations in OpenAlex.
- Genetic insights: proband- only exome sequencing in pediatric neurological disorders.Journal of community genetics · 2026Article
- De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.Brain : a journal of neurology · 2025Article
- TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.Nature communications · 2024Article
- RNA binding proteins in cardiovascular development and disease.Current topics in developmental biology · 2024Article
- Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.Molecular genetics & genomic medicine · 2023Article
- Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.Human molecular genetics · 2022Article
- Comparison of viral RNA-host protein interactomes across pathogenic RNA viruses informs rapid antiviral drug discovery for SARS-CoV-2.Cell research · 2022Article
- Modifying the mMolecular psychiatry · 2021Article
- Structure of the human core transcription-export complex reveals a hub for multivalent interactions.eLife · 2020Article
- The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.Medicine · 2020Article
- Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.Frontiers in molecular neuroscience · 2020Article
- Article
- Quantifying the contribution of recessive coding variation to developmental disorders.Science (New York, N.Y.) · 2018Article
- The THO Complex Coordinates Transcripts for Synapse Development and Dopamine Neuron Survival.Cell · 2018Article
- Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.Human mutation · 2018Article
- The polyadenosine RNA-binding protein ZC3H14 interacts with the THO complex and coordinately regulates the processing of neuronal transcripts.Nucleic acids research · 2018Article
- Insights into the ubiquitin-proteasome system of human embryonic stem cells.Scientific reports · 2018Article
- RNA Degradation in Neurodegenerative Disease.Advances in neurobiology · 2018Review
- Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Molecular psychiatry · 2017Article
- The role of TREX in gene expression and disease.The Biochemical journal · 2016Review
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Authors and funding
16 authors at 10 institutions in 2 countries.
Funding
Abstract
backgroundWe recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder. METHODS AND
resultsCandidate gene sequencing followed by exome sequencing identified a homozygous missense mutation p.Gly46Arg, in THOC6. No other potentially causative coding variants were present within the critical region on chromosome 16. THOC6 is a member of the THO/TREX complex which is involved in coordinating mRNA processing with mRNA export from the nucleus. In situ hybridization showed that thoc6 is highly expressed in the midbrain and eyes. Cellular localization studies demonstrated that wild-type THOC6 is present within the nucleus as is the case for other THO complex proteins. However, mutant THOC6 was predominantly localized to the cytoplasm, suggesting that the mutant protein is unable to carry out its normal function. siRNA knockdown of THOC6 revealed increased apoptosis in cultured cells.
conclusionOur findings associate a missense mutation in THOC6 with intellectual disability, suggesting the THO/TREX complex plays an important role in neurodevelopment.
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