ArticleBirth defects research. Part A, Clinical and molecular teratology2015
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2015. 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, 40 citations in OpenAlex.
- A Homozygous Mutation (c.241G > A, p.A81T) in the Calsequestrin-2 Causes Eye Defects in Zebrafish.Biochemical genetics · 2026Article
- Phase separation of OPTN initiates mitophagy to orchestrate craniofacial bone mineralization.Autophagy · 2026Article
- Integrated Single-Cell analysis Reveals molecular correlation of maternal-to-zygotic transition between human and pig embryo.Journal of translational medicine · 2026Article
- Intragenic loss-of-function variants in transcription factorsJournal of medical genetics · 2026Article
- A novelTranslational pediatrics · 2025Article
- Addressing the tissue specificity of U5 snRNP spliceosomopathies.Frontiers in cell and developmental biology · 2025Article
- Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms.Frontiers in cell and developmental biology · 2025Review
- Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.BMC medical genomics · 2024Article
- Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.Molecular genetics & genomic medicine · 2024Article
- A common cellular response to broad splicing perturbations is characterized by metabolic transcript downregulation driven by the Mdm2-p53 axis.Disease models & mechanisms · 2024Article
- Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish.Disease models & mechanisms · 2023Article
- The emerging significance of splicing in vertebrate development.Development (Cambridge, England) · 2022Review
- The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.Journal of developmental biology · 2022Article
- A de novo start-loss inCold Spring Harbor molecular case studies · 2022Article
- Disease Modeling of Rare Neurological Disorders in Zebrafish.International journal of molecular sciences · 2022Review
- Over-activation of EFTUD2 correlates with tumor propagation and poor survival outcomes in hepatocellular carcinoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022Article
- Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.Human molecular genetics · 2021Article
- Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.American journal of medical genetics. Part A · 2021Article
- The Role of the U5 snRNP in Genetic Disorders and Cancer.Frontiers in genetics · 2021Review
- Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.PloS one · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundCongenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and display a high level of genetic heterogeneity.
methodsTo identify the pathogenic variant in a patient with microphthalmia, coloboma, retinal dystrophy, microcephaly, and other features, whole exome sequencing analysis of the patient and parental samples was undertaken. To further explore the identified variant/gene, expression and functional studies in zebrafish were performed.
resultsWhole exome sequencing revealed a de novo variant, c.473_474delGA, p.(Arg158Lysfs*4), in EFTUD2 which encodes a component of the spliceosome complex. Dominant mutations in EFTUD2 cause Mandibulofacial Dysostosis, Guion-Almeida type, which does not involve microphthalmia, coloboma, or retinal dystrophy; analysis of genes known to cause these ocular phenotypes identified several variants of unknown significance but no causal alleles in the affected patient. Zebrafish eftud2 demonstrated high sequence conservation with the human gene and broad embryonic expression. TALEN-mediated disruption was employed to generate a c.378_385 del, p.(Ser127Aspfs*23) truncation mutation in eftud2. Homozygous mutants displayed a reduced head size, small eye, curved body, and early embryonic lethality. Apoptosis assays demonstrated a striking increase in terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end-labeling (TUNEL)-positive cells in the developing brain, eye, spinal cord, and other tissues starting at 30 hours postfertilization.
conclusionThis study reports a novel mutation in EFTUD2 in a Mandibulofacial Dysostosis, Guion-Almeida type patient with unusual ocular features and the generation of a first animal model of eftud2 deficiency. The severe embryonic phenotype observed in eftud2 mutants indicates an important conserved role during development of diverse tissues in vertebrates.
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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.