Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/130852
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Rabionet Janssen, Raquel | - |
dc.contributor.author | Remesal, Agustín | - |
dc.contributor.author | Mensa-Vilaró, Anna | - |
dc.contributor.author | Murías, Sara | - |
dc.contributor.author | Alcobendas, Rosa | - |
dc.contributor.author | González-Roca, Eva | - |
dc.contributor.author | Ruiz Ortiz, Estíbaliz | - |
dc.contributor.author | Antón, Jordi | - |
dc.contributor.author | Iglesias Jiménez, Estíbaliz | - |
dc.contributor.author | Modesto, Consuelo | - |
dc.contributor.author | Comas, David | - |
dc.contributor.author | Puig, Anna | - |
dc.contributor.author | Drechsel, Oliver | - |
dc.contributor.author | Ossowski, Stephan | - |
dc.contributor.author | Yagüe, Jordi | - |
dc.contributor.author | Merino, Rosa | - |
dc.contributor.author | Estivill, Xavier, 1955- | - |
dc.contributor.author | Aróstegui Gorospe, Juan Ignacio | - |
dc.date.accessioned | 2019-03-25T16:07:51Z | - |
dc.date.available | 2019-03-25T16:07:51Z | - |
dc.date.issued | 2019-03-14 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | http://hdl.handle.net/2445/130852 | - |
dc.description.abstract | Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We describe three affected siblings from a Moroccan consanguineous family with an early-onset chronic, symmetric and erosive arthritis previously diagnosed as rheumatoid factor (RF)-negative polyarticular JIA. Autozygosity mapping identified four homozygous regions shared by all patients, located in chromosomes 3, 6 (n:2) and 13, containing over 330 genes. Subsequent whole exome sequencing identified two potential candidate variants within these regions (in FARS2 and LACC1/FAMIN). Genotyping of a cohort of healthy Moroccan individuals (n: 352) and bioinformatics analyses finally supported the frameshift c.128_129delGT mutation in the LACC1/FAMIN gene, leading to a truncated protein (p.Cys43Tyrfs*6), as the most probable causative gene defect. Additional targeted sequencing studies performed in patients with systemic-onset JIA (n:23) and RF-negative polyarticular JIA (n: 44) revealed no pathogenic LACC1/FAMIN mutations. Our findings support the homozygous genotype in the LACC1/FAMIN gene as the defect underlying the family here described with a recessively inherited severe inflammatory joint disease. Our evidences provide further support to the involvement of LACC1/FAMIN deficiency in different types of JIA in addition to the initially described systemic-onset JIA. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/s41598-019-40874-2 | - |
dc.relation.ispartof | Scientific Reports, 2019, vol. 9, p. 4579 | - |
dc.relation.uri | https://doi.org/10.1038/s41598-019-40874-2 | - |
dc.rights | cc-by (c) Rabionet Janssen, Raquel et al., 2019 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Artritis reumatoide | - |
dc.subject.classification | Joves | - |
dc.subject.other | Rheumatoid arthritis | - |
dc.subject.other | Youth | - |
dc.title | Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 689332 | - |
dc.date.updated | 2019-03-25T16:07:51Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/262055/EU//ESGI | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30872671 | - |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Publicacions de projectes de recerca finançats per la UE |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
689332.pdf | 1.28 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License