ArticleJournal of medical genetics2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- A meta-analysis of public microarray data identifies biological regulatory networks in Parkinson's disease.BMC medical genomics · 2018Pooled it
- Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor.Nature genetics · 2026Article
- Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.Nature communications · 2024Article
- Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.European journal of human genetics : EJHG · 2023Article
- Benchmarking full-length transcript single cell mRNA sequencing protocols.BMC genomics · 2022Article
- MiR-30e-3p inhibits gastric cancer development by negatively regulating THO complex 2 and PI3K/AKT/mTOR signaling.World journal of gastrointestinal oncology · 2022Article
- Brain region-specific effects of nearly fixed sapiens-derived alleles.BMC genomic data · 2022Article
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- 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
- Knockdown THOC2 suppresses the proliferation and invasion of melanoma.Bioengineered · 2019Article
- Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.BMC medical genomics · 2019Article
- A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.PloS one · 2019Article
- 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
- RNA Degradation in Neurodegenerative Disease.Advances in neurobiology · 2018Review
- The role of TREX in gene expression and disease.The Biochemical journal · 2016Review
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.American journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 4 countries.
Funding
Abstract
BACKGROUND AND
aimWe identified a balanced de novo translocation involving chromosomes Xq25 and 8q24 in an eight year-old girl with a non-progressive form of congenital ataxia, cognitive impairment and cerebellar hypoplasia. METHODS AND
resultsBreakpoint definition showed that the promoter of the Protein Tyrosine Kinase 2 (PTK2, also known as Focal Adhesion Kinase, FAK) gene on chromosome 8q24.3 is translocated 2 kb upstream of the THO complex subunit 2 (THOC2) gene on chromosome Xq25. PTK2 is a well-known non-receptor tyrosine kinase whereas THOC2 encodes a component of the evolutionarily conserved multiprotein THO complex, involved in mRNA export from nucleus. The translocation generated a sterile fusion transcript under the control of the PTK2 promoter, affecting expression of both PTK2 and THOC2 genes. PTK2 is involved in cell adhesion and, in neurons, plays a role in axonal guidance, and neurite growth and attraction. However, PTK2 haploinsufficiency alone is unlikely to be associated with human disease. Therefore, we studied the role of THOC2 in the CNS using three models: 1) THOC2 ortholog knockout in C.elegans which produced functional defects in specific sensory neurons; 2) Thoc2 knockdown in primary rat hippocampal neurons which increased neurite extension; 3) Thoc2 knockdown in neuronal stem cells (LC1) which increased their in vitro growth rate without modifying apoptosis levels.
conclusionWe suggest that THOC2 can play specific roles in neuronal cells and, possibly in combination with PTK2 reduction, may affect normal neural network formation, leading to cognitive impairment and cerebellar congenital hypoplasia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.