ArticleEuropean journal of human genetics : EJHG2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- GTPBP2 inactivates Hippo signaling to promote triple-negative breast cancer cell malignancy.Scientific reports · 2026Article
- Novel function of GTPBP2 in promoting hepatocellular carcinoma progression through inhibition of BTRC-mediated KRAS degradation.Cancer cell international · 2026Article
- Structural mechanism of mRNA decoding by mammalian GTPase GTPBP1.Nature communications · 2025Article
- Structural mechanism of mRNA decoding by mammalian GTPase GTPBP1.bioRxiv : the preprint server for biology · 2025Article
- Dysregulated ribosome quality control in human diseases.The FEBS journal · 2025Review
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.American journal of human genetics · 2024Article
- Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins.Brain : a journal of neurology · 2023Article
- Uncovering the genetic profiles underlying the intrinsic organization of the human cerebellum.Molecular psychiatry · 2022Article
- Eukaryotic ribosome quality control system: a potential therapeutic target for human diseases.International journal of biological sciences · 2022Review
- The trinity of ribosome-associated quality control and stress signaling for proteostasis and neuronal physiology.BMB reports · 2021Review
- Translational control in aging and neurodegeneration.Wiley interdisciplinary reviews. RNA · 2021Review
- Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Review
- Effects of care bundles for patients with pressure ulcers and the impact on self-care efficacy.American journal of translational research · 2021Article
- Article
- NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.Nature communications · 2020Article
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Translation from the Ribosome to the Clinic: Implication in Neurological Disorders and New Perspectives from Recent Advances.Biomolecules · 2019Review
- Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition.Pharmaceuticals (Basel, Switzerland) · 2019Review
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, especially when reporting only single families, need independent confirmation. We present three unrelated families in which whole-exome sequencing identified the homozygous non-sense variants c.430[C>T];[C>T] p.(Arg144*), c.1219[C>T];[C>T] p.(Gln407*) and c.1408[C>T];[C>T] p.(Arg470*) in GTPBP2. Their clinical presentations include early onset and apparently non-progressive motor and cognitive impairment, and thereby overlap with findings in a recently described family harbouring a homozygous GTPBP2 splice site variant. Notable differences include structural brain abnormalities (e.g., agenesis of the corpus callosum, exclusive to our patients), and evidence for brain iron accumulation (exclusive to the previously described family). This report confirms pathogenicity of biallelic GTPBP2 inactivation and broadens the phenotypic spectrum. It also underlines that a potential involvement of brain iron accumulation needs clarification. Further patients will have to be identified and characterised in order to fully define the core features of GTPBP2-associated neurological disorder, but future approaches to molecular diagnosis of neurodevelopmental disorders should implement GTPBP2.
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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.