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Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis Basil M. Fathalla1* , Elham Ahmed Elgabaly2 and Ahmad Abou Tayoun3

Abstract Background: A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA. Case presentation: An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister. Conclusions: Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases. Keywords: Progressive pseudorheumatoid dysplasia, Juvenile idiopathic arthritis, Familial Mediterranean fever, Whole-exome sequencing

* Correspondence: [email protected] 1 Section of Pediatric Rheumatology, Department of Medical Subspecialties, Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This 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 per

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