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High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

BACKGROUND: 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). METHODS: The coding re...

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Autores principales: d’Adamo, Adamo Pio, Bianco, Anna Monica, Ferrara, Giovanna, La Bianca, Martina, Insalaco, Antonella, Tommasini, Alberto, Pardeo, Manuela, Cattalini, Marco, La Torre, Francesco, Finetti, Martina, Alizzi, Clotilde, Simonini, Gabriele, Messia, Virginia, Pastore, Serena, Cimaz, Rolando, Gattorno, Marco, Taddio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350626/
https://www.ncbi.nlm.nih.gov/pubmed/32650789
http://dx.doi.org/10.1186/s12969-020-00447-4
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author d’Adamo, Adamo Pio
Bianco, Anna Monica
Ferrara, Giovanna
La Bianca, Martina
Insalaco, Antonella
Tommasini, Alberto
Pardeo, Manuela
Cattalini, Marco
La Torre, Francesco
Finetti, Martina
Alizzi, Clotilde
Simonini, Gabriele
Messia, Virginia
Pastore, Serena
Cimaz, Rolando
Gattorno, Marco
Taddio, Andrea
author_facet d’Adamo, Adamo Pio
Bianco, Anna Monica
Ferrara, Giovanna
La Bianca, Martina
Insalaco, Antonella
Tommasini, Alberto
Pardeo, Manuela
Cattalini, Marco
La Torre, Francesco
Finetti, Martina
Alizzi, Clotilde
Simonini, Gabriele
Messia, Virginia
Pastore, Serena
Cimaz, Rolando
Gattorno, Marco
Taddio, Andrea
author_sort d’Adamo, Adamo Pio
collection PubMed
description BACKGROUND: 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). METHODS: The 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. RESULTS: Eighteen 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. CONCLUSION: Considering 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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spelling pubmed-73506262020-07-14 High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) d’Adamo, Adamo Pio Bianco, Anna Monica Ferrara, Giovanna La Bianca, Martina Insalaco, Antonella Tommasini, Alberto Pardeo, Manuela Cattalini, Marco La Torre, Francesco Finetti, Martina Alizzi, Clotilde Simonini, Gabriele Messia, Virginia Pastore, Serena Cimaz, Rolando Gattorno, Marco Taddio, Andrea Pediatr Rheumatol Online J Research Article BACKGROUND: 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). METHODS: The 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. RESULTS: Eighteen 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. CONCLUSION: Considering 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. BioMed Central 2020-07-10 /pmc/articles/PMC7350626/ /pubmed/32650789 http://dx.doi.org/10.1186/s12969-020-00447-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
d’Adamo, Adamo Pio
Bianco, Anna Monica
Ferrara, Giovanna
La Bianca, Martina
Insalaco, Antonella
Tommasini, Alberto
Pardeo, Manuela
Cattalini, Marco
La Torre, Francesco
Finetti, Martina
Alizzi, Clotilde
Simonini, Gabriele
Messia, Virginia
Pastore, Serena
Cimaz, Rolando
Gattorno, Marco
Taddio, Andrea
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title_full High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title_fullStr High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title_full_unstemmed High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title_short High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
title_sort high prevalence of rare fblim1 gene variants in an italian cohort of patients with chronic non-bacterial osteomyelitis (cno)
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350626/
https://www.ncbi.nlm.nih.gov/pubmed/32650789
http://dx.doi.org/10.1186/s12969-020-00447-4
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