PDF(Pubmed)
Abstract：
Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive arthropathy, affecting school-aged children. It is characterized by progressive degeneration of the articular cartilage. The majority of the pathogenic variations are found in exon 2, exon 4, and exon 5 of the putative gene, CCN6 (WISP3). Three unrelated individuals with clinical diagnosis of PPD were included in this study. Detailed clinicoradiological evaluation was attempted with brief literature review. Exome sequencing was performed in all three cases. All the pathogenic variations detected in our cohort were located in exons 2 and 4 of WISP3 gene. Though the clinicoradiological features are already well described, this study in north India highlights the occurrence of a recurring pathogenic variant. The c.740_741del variant was a recurrent pathogenic variant seen in all three patients in this cohort. This may be a common pathogenic variant in the North Indian population; however, a larger cohort needs to be studied before drawing final conclusions. A proper molecular diagnosis is a must to end the diagnostic odyssey, safeguarding patients with PPRD from unnecessary use of drugs like corticosteroids.
摘要：
进行性假性类风湿发育不良（PPRD）是一种常染色体隐性遗传性关节病，影响学龄儿童。其特征在于关节软骨的进行性变性。大多数致病变异在推定基因的外显子2，外显子4和外显子5中发现，CCN6（WISP3）。本研究包括3名临床诊断为PPD的无关个体。通过简短的文献回顾，尝试了详细的临床放射学评估。在所有三种情况下进行外显子组测序。我们队列中检测到的所有致病性变异均位于WISP3基因的外显子2和4。尽管临床放射学特征已经得到很好的描述，在印度北部的这项研究强调了复发性致病变异的发生。c.740_741del变体是在该队列中的所有三名患者中观察到的复发性致病变体。这可能是北印度人口中常见的致病变异；然而，在得出最终结论之前，需要研究一个更大的队列。正确的分子诊断是结束诊断冒险的必要条件，保护PPRD患者免于不必要地使用皮质类固醇等药物。
