High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)
Abstract 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 co...
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| Format: | Article |
| Language: | English |
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BMC
2020-07-01
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| Series: | Pediatric Rheumatology Online Journal |
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| Online Access: | http://link.springer.com/article/10.1186/s12969-020-00447-4 |
| _version_ | 1819228983283154944 |
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| author | Adamo Pio d’Adamo Anna Monica Bianco Giovanna Ferrara Martina La Bianca Antonella Insalaco Alberto Tommasini Manuela Pardeo Marco Cattalini Francesco La Torre Martina Finetti Clotilde Alizzi Gabriele Simonini Virginia Messia Serena Pastore Rolando Cimaz Marco Gattorno Andrea Taddio for the Italian Pediatric Rheumatology Study Group |
| author_facet | Adamo Pio d’Adamo Anna Monica Bianco Giovanna Ferrara Martina La Bianca Antonella Insalaco Alberto Tommasini Manuela Pardeo Marco Cattalini Francesco La Torre Martina Finetti Clotilde Alizzi Gabriele Simonini Virginia Messia Serena Pastore Rolando Cimaz Marco Gattorno Andrea Taddio for the Italian Pediatric Rheumatology Study Group |
| author_sort | Adamo Pio d’Adamo |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-23T11:05:57Z |
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| id | doaj.art-89cd5f5c8f7043b0b28ce7401ce3bf6c |
| institution | Directory Open Access Journal |
| issn | 1546-0096 |
| language | English |
| last_indexed | 2024-12-23T11:05:57Z |
| publishDate | 2020-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj.art-89cd5f5c8f7043b0b28ce7401ce3bf6c2022-12-21T17:49:28ZengBMCPediatric Rheumatology Online Journal1546-00962020-07-011811610.1186/s12969-020-00447-4High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)Adamo Pio d’Adamo0Anna Monica Bianco1Giovanna Ferrara2Martina La Bianca3Antonella Insalaco4Alberto Tommasini5Manuela Pardeo6Marco Cattalini7Francesco La Torre8Martina Finetti9Clotilde Alizzi10Gabriele Simonini11Virginia Messia12Serena Pastore13Rolando Cimaz14Marco Gattorno15Andrea Taddio16for the Italian Pediatric Rheumatology Study GroupUniversity of TriesteInstitute for Maternal and Child Health - IRCCS “Burlo Garofolo”University of TriesteInstitute for Maternal and Child Health - IRCCS “Burlo Garofolo”Department of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children’s HospitalInstitute for Maternal and Child Health - IRCCS “Burlo Garofolo”Department of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children’s HospitalPediatric Clinic University of Brescia and Spedali Civili of BresciaPediatric Rheumatology Center, Pediatric Unit, “Giovanni XXIII”, Pediatric HospitalCentro Malattie Autoinfiammatorie e Immunodeficenze, IRCCS “G. Gaslini””G. Di Cristina”Children’s HospitalPediatric Rheumatology Unit, AOU Meyer, University of FlorenceDepartment of Pediatric Medicine, Division of Rheumatology, Bambino Gesù Children’s HospitalInstitute for Maternal and Child Health - IRCCS “Burlo Garofolo”Azienda Socio Sanitaria Territoriale (ASST) G.Pini and University of MilanCentro Malattie Autoinfiammatorie e Immunodeficenze, IRCCS “G. Gaslini”University of TriesteAbstract 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.http://link.springer.com/article/10.1186/s12969-020-00447-4Chronic non-bacterial osteomyelitisFBLIM1 geneBone sterile inflammationAutoinflammatory disease |
| spellingShingle | Adamo Pio d’Adamo Anna Monica Bianco Giovanna Ferrara Martina La Bianca Antonella Insalaco Alberto Tommasini Manuela Pardeo Marco Cattalini Francesco La Torre Martina Finetti Clotilde Alizzi Gabriele Simonini Virginia Messia Serena Pastore Rolando Cimaz Marco Gattorno Andrea Taddio for the Italian Pediatric Rheumatology Study Group High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) Pediatric Rheumatology Online Journal Chronic non-bacterial osteomyelitis FBLIM1 gene Bone sterile inflammation Autoinflammatory disease |
| 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 | Chronic non-bacterial osteomyelitis FBLIM1 gene Bone sterile inflammation Autoinflammatory disease |
| url | http://link.springer.com/article/10.1186/s12969-020-00447-4 |
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