Alawbathani Salem, Kawalia Amit, Karakaya Mert, Altmüller Janine, Nürnberg Peter, Cirak Sebahattin
Cologne Center for Genomics (CCG), 50931 Cologne, Germany.
Institute of Biochemistry I, University of Cologne, 50931 Cologne, Germany.
Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). doi: 10.1101/mcs.a002139. Print 2018 Feb.
Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 yr. Both were neglected in the past, and the patients presented with a very severe phenotype and unmitigated natural history. PPD is a rare autosomal recessive skeletal dysplasia characterized by progressive joint stiffness, swelling, and pain. Because of observed muscle wasting, weakness, and the lack of laboratory testing, the case had been initially misdiagnosed by the local physicians. We aimed to provide diagnostic support by a targeted next-generation sequencing gene panel (Illumina TruSight One) for Mendelian diseases (Mendeliome), and we identified a homozygous frameshift mutation in the gene (c.868_869delAG, p.Ser290Leufs*12). Thus, early diagnosis and intervention may have decreased the severity and complication of the disease.
罕见病常常被误诊或诊断延迟；因此，不幸的是，患者可能无法得到最佳的医疗管理。在此，我们报告一例患有进行性假类风湿性发育不良（PPD）严重表型的两兄弟病例。他们的症状始于3岁。过去两人都被忽视了，患者表现出非常严重的表型和未缓解的自然病程。PPD是一种罕见的常染色体隐性骨骼发育不良，其特征为进行性关节僵硬、肿胀和疼痛。由于观察到肌肉萎缩、无力且缺乏实验室检测，该病例最初被当地医生误诊。我们旨在通过针对孟德尔疾病（孟德尔组）的靶向二代测序基因panel（Illumina TruSight One）提供诊断支持，并且我们在 基因中鉴定出一个纯合移码突变（c.868_869delAG，p.Ser290Leufs*12）。因此，早期诊断和干预可能会降低疾病的严重程度和并发症。
