ArticlePloS one2013
Identification of the DNA repair defects in a case of Dubowitz syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.The Journal of allergy and clinical immunology · 2023Article
- Research models of neurodevelopmental disorders: The right model in the right place.Frontiers in neuroscience · 2022Review
- Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.Molecular genetics & genomic medicine · 2021Article
- Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.Frontiers in immunology · 2021Article
- LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.Orphanet journal of rare diseases · 2020Article
- Correction to: Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.BMC pediatrics · 2019Article
- Human DNA ligase IV is able to use NAD+ as an alternative adenylation donor for DNA ends ligation.Nucleic acids research · 2019Article
- A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.Journal of clinical immunology · 2019Article
- Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.Frontiers in pediatrics · 2018Article
- Review
- Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.BMC medical genetics · 2016Article
- DNA ligase IV syndrome; a review.Orphanet journal of rare diseases · 2016Review
- Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Journal of clinical immunology · 2016Article
- The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.Journal of immunology (Baltimore, Md. : 1950) · 2016Article
- Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.Journal of human genetics · 2015Article
- Yeast DNA ligase IV mutations reveal a nonhomologous end joining function of BRCT1 distinct from XRCC4/Lif1 binding.DNA repair · 2014Article
- Extreme growth failure is a common presentation of ligase IV deficiency.Human mutation · 2014Article
- Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.PloS one · 2014Article
- Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.Human mutation · 2013Article
- Dubowitz syndrome: common findings and peculiar urine odor.The application of clinical genetics · 2013Article
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Authors and funding
7 authors at 1 institution.
Funding
Abstract
Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In this study, we systematically analyzed the DNA damage response and repair capability of fibroblasts established from a Dubowitz Syndrome patient. Dubowitz syndrome fibroblasts are hypersensitive to ionizing radiation, bleomycin, and doxorubicin. However, they have relatively normal sensitivities to mitomycin-C, cisplatin, and camptothecin. Dubowitz syndrome fibroblasts also have normal DNA damage signaling and cell cycle checkpoint activations after DNA damage. These data implicate a defect in repair of DNA double strand break (DSB) likely due to defective non-homologous end joining (NHEJ). We further sequenced several genes involved in NHEJ, and identified a pair of novel compound mutations in the DNA Ligase IV gene. Furthermore, expression of wild type DNA ligase IV completely complement the DNA repair defects in Dubowitz syndrome fibroblasts, suggesting that the DNA ligase IV mutation is solely responsible for the DNA repair defects. These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.
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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.