Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy
Objective To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. Methods We identified 2 families segregating an autosomal‐dominant p...
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| Published in: | Arthritis & rheumatology (Hoboken, N.J.) Vol. 69; no. 10; pp. 2081 - 2091 |
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| Abstract | Objective
To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy.
Methods
We identified 2 families segregating an autosomal‐dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)–stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double‐stranded RNA (dsRNA) sensor melanoma differentiation–associated protein 5 (MDA‐5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells.
Results
We recorded an up‐regulation of type I IFN–induced gene transcripts in all 5 patients tested and identified a heterozygous gain‐of‐function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA‐5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA‐5.
Conclusion
These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA‐5, and emphasize the value of testing for up‐regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton‐Merten syndrome and neuroinflammation described in the context of MDA‐5 gain‐of‐function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy. |
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| AbstractList | OBJECTIVETo define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy.METHODSWe identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)-stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA (dsRNA) sensor melanoma differentiation-associated protein 5 (MDA-5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells.RESULTSWe recorded an up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and identified a heterozygous gain-of-function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA-5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA-5.CONCLUSIONThese cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA-5, and emphasize the value of testing for up-regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy. Objective To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. Methods We identified 2 families segregating an autosomal‐dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)–stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double‐stranded RNA (dsRNA) sensor melanoma differentiation–associated protein 5 (MDA‐5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells. Results We recorded an up‐regulation of type I IFN–induced gene transcripts in all 5 patients tested and identified a heterozygous gain‐of‐function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA‐5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA‐5. Conclusion These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA‐5, and emphasize the value of testing for up‐regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton‐Merten syndrome and neuroinflammation described in the context of MDA‐5 gain‐of‐function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy. To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental abnormalities, cardiac valve involvement, glaucoma, and basal ganglia calcification. We measured the expression of interferon (IFN)-stimulated genes in the peripheral blood and skin, and undertook targeted Sanger sequencing of the IFIH1 gene encoding the cytosolic double-stranded RNA (dsRNA) sensor melanoma differentiation-associated protein 5 (MDA-5). We also assessed the functional consequences of IFIH1 gene variants using an in vitro IFNβ reporter assay in HEK 293T cells. We recorded an up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and identified a heterozygous gain-of-function mutation in IFIH1 in each family, resulting in different substitutions of the threonine residue at position 331 of MDA-5. Both of these variants were associated with increased IFNβ expression in the absence of exogenous dsRNA ligand, consistent with constitutive activation of MDA-5. These cases highlight the significant musculoskeletal involvement that can be associated with mutations in MDA-5, and emphasize the value of testing for up-regulation of IFN signaling as a marker of the underlying molecular lesion. Our data indicate that both Singleton-Merten syndrome and neuroinflammation described in the context of MDA-5 gain-of-function constitute part of the same type I interferonopathy disease spectrum, and provide possible novel insight into the pathology of Jaccoud's arthropathy. |
| Author | Hur, Sun Crow, Yanick J. Tzschach, Andreas Horn, Denise Park, Ji Woo Kallinich, Tilmann Nogueira‐Barbosa, Marcello H. de Carvalho, Luciana Martins Lourenço, Charles M. Rice, Gillian I. Melki, Isabelle Marques, Wilson Souza, Flávio Falcäo L. Ferriani, Virgínia Ehmke, Nadja Stenzel, Werner Ngoumou, Gonza Kitabayashi, Naoki Louzada‐Junior, Paulo Deigendesch, Nikolaus |
| AuthorAffiliation | 6 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut, Imagine, Hôpital Robert Debré, AP-HP Paris, and Hôpital Necker-Enfants Malades, AP-HP Paris, Paris, France 5 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation and Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France 8 Harvard Medical School, Boston, Massachusetts 9 University of Manchester, Manchester Academic Health Science Centre, Manchester, UK 1 Ribeirão Preto Medical, School, University of São Paulo, São Paulo, Brazil 3 Boston College, Chestnut Hill, Massachusetts 4 Charité-Universitätsmedizin, Berlin and Berlin Institute of Health, Berlin, Germany 2 Charité-Universitätsmedizin, Berlin, Berlin, Germany 7 Technische Universität Dresden, Dresden, Germany 10 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Mala |
| AuthorAffiliation_xml | – name: 4 Charité-Universitätsmedizin, Berlin and Berlin Institute of Health, Berlin, Germany – name: 10 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP-HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre, Manchester, UK – name: 2 Charité-Universitätsmedizin, Berlin, Berlin, Germany – name: 1 Ribeirão Preto Medical, School, University of São Paulo, São Paulo, Brazil – name: 5 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation and Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France – name: 3 Boston College, Chestnut Hill, Massachusetts – name: 8 Harvard Medical School, Boston, Massachusetts – name: 6 INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut, Imagine, Hôpital Robert Debré, AP-HP Paris, and Hôpital Necker-Enfants Malades, AP-HP Paris, Paris, France – name: 9 University of Manchester, Manchester Academic Health Science Centre, Manchester, UK – name: 7 Technische Universität Dresden, Dresden, Germany |
| Author_xml | – sequence: 1 givenname: Luciana Martins surname: de Carvalho fullname: de Carvalho, Luciana Martins organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 2 givenname: Gonza surname: Ngoumou fullname: Ngoumou, Gonza organization: Charité–Universitätsmedizin Berlin – sequence: 3 givenname: Ji Woo surname: Park fullname: Park, Ji Woo organization: Boston College – sequence: 4 givenname: Nadja surname: Ehmke fullname: Ehmke, Nadja organization: Charité–Universitätsmedizin Berlin and Berlin Institute of Health – sequence: 5 givenname: Nikolaus surname: Deigendesch fullname: Deigendesch, Nikolaus organization: Charité–Universitätsmedizin Berlin – sequence: 6 givenname: Naoki surname: Kitabayashi fullname: Kitabayashi, Naoki organization: INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation and Paris Descartes University, Sorbonne Paris Cité, Institut Imagine – sequence: 7 givenname: Isabelle surname: Melki fullname: Melki, Isabelle organization: Isabelle Melki, MD: INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Hôpital Robert Debré, AP‐HP Paris, and Hôpital Necker‐Enfants Malades, AP‐HP Paris – sequence: 8 givenname: Flávio Falcäo L. surname: Souza fullname: Souza, Flávio Falcäo L. organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 9 givenname: Andreas surname: Tzschach fullname: Tzschach, Andreas organization: Technische Universität Dresden – sequence: 10 givenname: Marcello H. surname: Nogueira‐Barbosa fullname: Nogueira‐Barbosa, Marcello H. organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 11 givenname: Virgínia surname: Ferriani fullname: Ferriani, Virgínia organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 12 givenname: Paulo surname: Louzada‐Junior fullname: Louzada‐Junior, Paulo organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 13 givenname: Wilson surname: Marques fullname: Marques, Wilson organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 14 givenname: Charles M. surname: Lourenço fullname: Lourenço, Charles M. organization: Ribeirão Preto Medical School, University of São Paulo – sequence: 15 givenname: Denise surname: Horn fullname: Horn, Denise organization: Charité–Universitätsmedizin Berlin – sequence: 16 givenname: Tilmann surname: Kallinich fullname: Kallinich, Tilmann organization: Charité–Universitätsmedizin Berlin – sequence: 17 givenname: Werner surname: Stenzel fullname: Stenzel, Werner organization: Charité–Universitätsmedizin Berlin – sequence: 18 givenname: Sun surname: Hur fullname: Hur, Sun organization: Harvard Medical School – sequence: 19 givenname: Gillian I. surname: Rice fullname: Rice, Gillian I. organization: University of Manchester, Manchester Academic Health Science Centre – sequence: 20 givenname: Yanick J. surname: Crow fullname: Crow, Yanick J. email: yanickcrow@mac.com organization: INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, and Hôpital Necker Enfants Malades, AP‐HP Paris, Paris, France, and University of Manchester, Manchester Academic Health Science Centre |
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| Copyright | 2017, American College of Rheumatology 2017, American College of Rheumatology. |
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| Notes | Dr. Ehmke's work was supported by the Clinician Scientist Program funded by the Charité–Universitätsmedizin Berlin and the Berlin Institute of Health. Dr. Crow's work was supported by the European Research Council (grant GA309449) and a state subsidy managed by the National Research Agency, France (Investments for the Future grant ANR‐10‐IAHU‐01). Drs. de Carvalho, Ngoumou, and Ehmke and Mr. Park contributed equally to this work. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 All authors were involved in drafting the article or revising it critically for important intellectual content, and all authors approved the final version to be published. Dr. Crow had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. AUTHOR CONTRIBUTIONS |
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To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly,... To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation,... ObjectiveTo define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly,... OBJECTIVETo define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly,... |
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| SubjectTerms | Abnormalities Adolescent Adult Aortic Diseases - genetics Basal ganglia Basal Ganglia Diseases - genetics Calcification Calcification (ectopic) Calcinosis - genetics Camptodactyly Child Dental Enamel Hypoplasia - genetics Differentiation Double-stranded RNA Feet Ganglia Gene expression Gene sequencing Glaucoma Glaucoma - genetics Heart diseases Heart Valve Diseases - genetics HEK293 Cells Heterozygote Humans Identification methods Inflammation Interferon Interferon-Induced Helicase, IFIH1 - genetics Melanoma Metacarpus - abnormalities Middle Aged Muscular Diseases - genetics Musculoskeletal diseases Musculoskeletal Diseases - genetics Mutation Odontodysplasia - genetics Osteoporosis - genetics Peripheral blood Psoriasis Psoriasis - genetics Ribonucleic acid RNA Skin Syndrome Threonine Vascular Calcification - genetics |
| Title | Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy |
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