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.
Highlights
FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation
Cox et al have recently demonstrated that FBLIM1, a gene that codes for a protein involved in the regulation of bone remodeling, could be involved in the d’Adamo et al Pediatric Rheumatology (2020) 18:55 pathogenesis of sterile bone inflammation
Eighty patients diagnosed with Chronic Non-bacterial Osteomyelitis (CNO) were enrolled, 52 females (65%) and 28 males (35%)
Summary
FBLIM1 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). Cox et al have recently demonstrated that FBLIM1, a gene that codes for a protein involved in the regulation of bone remodeling, could be involved in the d’Adamo et al Pediatric Rheumatology (2020) 18:55 pathogenesis of sterile bone inflammation. The authors, via whole-exome sequencing, detected a homozygous mutation in the filamin-binding domain of FBLIM1 in an affected child with consanguineous parents. They sequenced FBLIM1 in 96 subjects with CNO and found a second patient with a distinct frameshift variant [6].
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