ArticlePloS one2017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
45 citing papers in PubMed, 97 citations in OpenAlex.
- Chronic Recurrent Multifocal Osteomyelitis: A Review of 80 Cases in Chinese Children.Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2026Review
- [Genetic basis of chronic nonbacterial osteomyelitis].Zeitschrift fur Rheumatologie · 2026Review
- Chronic nonbacterial osteomyelitis: a typical case and review.Frontiers in pediatrics · 2026Review
- Disruption of Morrbid alleviates autoinflammatory osteomyelitis in Pstpip2-deficient mice.Disease models & mechanisms · 2025Article
- Diagnostic and therapeutic insights from a cohort of chronic recurrent multifocal osteomyelitis (CRMO) patients.BMC rheumatology · 2025Article
- What Is New and What Is Next for SAPHO Syndrome Management: A Narrative Review.Journal of clinical medicine · 2025Review
- Autoinflammatory Bone Diseases.Balkan medical journal · 2025Review
- Pediatric mandibular chronic nonbacterial osteomyelitis: A case report with 12 years of radiologic follow-up.Imaging science in dentistry · 2024Article
- Sterile osteomyelitis: a cardinal sign of autoinflammation.Reumatologia · 2024Review
- Current and future advances in practice: SAPHO syndrome and chronic non-bacterial osteitis (CNO).Rheumatology advances in practice · 2024Review
- Pediatric-onset limited ANCA-associated vasculitis arising during pre-existing chronic recurrent multifocal osteomyelitis.Pediatric rheumatology online journal · 2023Article
- Review
- Transcriptome analysis based on machine learning reveals a role for autoinflammatory genes of chronic nonbacterial osteomyelitis (CNO).Scientific reports · 2023Article
- Chronic Nonbacterial Osteomyelitis and Inflammatory Bowel Disease: A Literature Review-Based Cohort.Children (Basel, Switzerland) · 2023Review
- Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity.Frontiers in pediatrics · 2023Review
- Pyoderma gangrenosum following anti-TNF therapy in chronic recurrent multifocal osteomyelitis: drug reaction or cutaneous manifestation of the disease? A critical review on the topic with an emblematic case report.Frontiers in medicine · 2023Review
- FBLIM1 mRNA is a novel prognostic biomarker and is associated with immune infiltrates in glioma.Open medicine (Warsaw, Poland) · 2023Article
- Two phenotypes of chronic recurrent multifocal osteomyelitis with different patterns of bone involvement.Pediatric rheumatology online journal · 2022Article
- Chronic recurrent multifocal osteomyelitis. A narrative and pictorial review.Frontiers in immunology · 2022Review
- Identification of the common differentially expressed genes and pathogenesis between neuropathic pain and aging.Frontiers in neuroscience · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which the genetic cause is known. However, for the majority of cases of CRMO, the genetic basis is unknown. Via whole-exome sequencing, we detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents. Microarray analysis of bone marrow macrophages from the CRMO murine model (cmo) determined that the Fblim1 ortholog is the most differentially expressed gene, downregulated over 20-fold in the cmo mouse. We sequenced FBLIM1 in 96 CRMO subjects and found a second proband with a novel frameshift mutation in exon 6 and a rare regulatory variant. In SaOS2 cells, overexpressing the regulatory mutation showed the flanking region acts as an enhancer, and the mutation ablates enhancer activity. Our data implicate FBLIM1 in the pathogenesis of sterile bone inflammation and our findings suggest CRMO is a disorder of chronic inflammation and imbalanced bone remodeling.
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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.