ArticlePediatric rheumatology online journal2020
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).
Article in Pediatric rheumatology online journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 14 citations in OpenAlex.
- [Genetic basis of chronic nonbacterial osteomyelitis].Zeitschrift fur Rheumatologie · 2026Review
- Chronic nonbacterial osteomyelitis: a typical case and review.Frontiers in pediatrics · 2026Review
- Chronic Non-Bacterial Osteomyelitis (CNO) in a Tertiary Center in Southern Italy: Response to Treatment and Outcome Stratification.Children (Basel, Switzerland) · 2025Article
- Current and future advances in practice: SAPHO syndrome and chronic non-bacterial osteitis (CNO).Rheumatology advances in practice · 2024Review
- Chronic Nonbacterial Osteomyelitis and Inflammatory Bowel Disease: A Literature Review-Based Cohort.Children (Basel, Switzerland) · 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
- Two phenotypes of chronic recurrent multifocal osteomyelitis with different patterns of bone involvement.Pediatric rheumatology online journal · 2022Article
- Genetics of chronic nonbacterial osteomyelitis in the irish population: no significant association with rare FBLIM1 variants.Pediatric rheumatology online journal · 2021Article
- [Pediatric bone marrow alterations].Der Radiologe · 2021Article
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18 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundFBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO).
methodsThe coding regions of FBLIM1 gene were sequenced in a cohort of 80 patients with CNO using DNA extracted from blood lymphocytes, and PCR products were sequenced. Only rare (global MAF < 2%), coding variants detected were considered. Clinical evaluation of patients with rare variants and those without was performed. Fisher's exact test was used to compare categorical and ordinal data, and Student's t-test was used to analyze continuous data.
resultsEighteen out of 80 patients (~ 22%) presented at least one rare coding variant in FBLIM1. Eight patients presented a variant never associated before with CNO. All patients presented classical features of CNO and no statistical difference between patients with presence of FBLMI1 variants and those without were found in terms of clinical manifestation, treatment, and outcome.
conclusionConsidering the high frequency of rare variants in our CNO cohort, our data seem to confirm a possible role of FBLIM1 in the pathogenesis of CNO suggesting that CNO is a disorder of chronic inflammation and imbalanced bone remodeling.
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