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
Main Authors:	de Carvalho, Luciana Martins, Ngoumou, Gonza, Park, Ji Woo, Ehmke, Nadja, Deigendesch, Nikolaus, Kitabayashi, Naoki, Melki, Isabelle, Souza, Flávio Falcäo L., Tzschach, Andreas, Nogueira‐Barbosa, Marcello H., Ferriani, Virgínia, Louzada‐Junior, Paulo, Marques, Wilson, Lourenço, Charles M., Horn, Denise, Kallinich, Tilmann, Stenzel, Werner, Hur, Sun, Rice, Gillian I., Crow, Yanick J.
Format:	Journal Article
Language:	English
Published:	United States Wiley Subscription Services, Inc 01-10-2017
Subjects:	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
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