A Case Report of Late-Onset Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Accompanied by Compound Mutations in the CCN6 Gene
Abstract：Late-onset spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a type of bone-cartilage developmental disorder, first reported in 1982. It is also known as progressive pseudorheumatoid dysplasia and is a rare autosomal recessive disease [1]. The causative gene, cell communication network factor 6 (CCN6), was sequenced and identified in 1998 [2]. Due to its low incidence, many patients are misdiagnosed with juvenile idiopathic arthritis, rheumatoid arthritis, or ankylosing spondylitis [3-4]. This article reports a case of SEDT-PA diagnosed through clinical features and genetic testing. The patient has two mutations in the CCN6 gene, including a missense mutation in exon 5, c.667T＞C, which has not been previously reported.
Keywords：spondyloepiphyseal dysplasia tarda with progressive arthropathycellular communication network factor 6 genegene mutation
Publication Date：2025-09-01
Online Publishing Date：2025-10-21(First online date of this platform, not the publication date of the document)
Pages：4( 797-799,804 )