ArticleJournal of molecular medicine (Berlin, Germany)2019
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Article in Journal of molecular medicine (Berlin, Germany), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.Journal of applied genetics · 2025Article
- Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.Molecular cytogenetics · 2025Article
- Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.The Journal of experimental medicine · 2025Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Apoptotic cell death in disease-Current understanding of the NCCD 2023.Cell death and differentiation · 2023Review
- Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series.Translational neuroscience · 2023Article
- Multiorgan neutrophilic inflammation in a Border Collie with "trapped" neutrophil syndrome.Journal of veterinary internal medicine · 2022Article
- Altered lncRNAs Transcriptomic Profiles in Atherosclerosis-Induced Ischemic Stroke.Cellular and molecular neurobiology · 2022Article
- A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report.Annals of medicine and surgery (2012) · 2021Article
- Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.Scientific reports · 2021Article
- A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.Clinical case reports · 2021Article
- Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients.Genome medicine · 2021Article
- Identification of a Novel VPS13B Mutation in a Chinese Patient with Cohen Syndrome by Whole-Exome Sequencing.Pharmacogenomics and personalized medicine · 2021Article
- A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.BMC medical genetics · 2020Review
- Variceal Bleed and Portal Hypertensive Gastropathy in a Noncirrhotic Patient with Isolated Splenomegaly.Case reports in hepatology · 2020Article
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Authors and funding
26 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate here that this neutropenia results from an exaggerate rate of neutrophil apoptosis. Besides this increased cell death, which occurs in the absence of any endoplasmic reticulum stress or defect in neutrophil elastase (ELANE) expression or localization, all neutrophil functions appeared to be normal. We showed a disorganization of the Golgi apparatus in CS neutrophils precursors, that correlates with an altered glycosylation of ICAM-1 in these cells, as evidenced by a migration shift of the protein. Furthermore, a striking decrease in the expression of SERPINB1 gene, which encodes a critical component of neutrophil survival, was detected in CS neutrophils. These abnormalities may account for the excessive apoptosis of neutrophils leading to neutropenia in CS. KEY MESSAGES: Cohen syndrome patients' neutrophils display normal morphology and functions. Cohen syndrome patients' neutrophils have an increased rate of spontaneous apoptosis compared to healthy donors' neutrophils. No ER stress or defective ELA2 expression or glycosylation was observed in Cohen syndrome patients' neutrophils. SerpinB1 expression is significantly decreased in Cohen syndrome neutrophils as well as in VPS13B-deficient cells.
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