Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.
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 WISP3 (c.868_869delAG, p.Ser290Leufs*12). Thus, early diagnosis and intervention may have decreased the severity and complication of the disease.
['Alawbathani|Salem|S|', 'Kawalia|Amit|A|', 'Karakaya|Mert|M|', 'Altmüller|Janine|J|', 'Nürnberg|Peter|P|', 'Cirak|Sebahattin|S|']
D001483:Base Sequence D055511:CCN Intercellular Signaling Proteins D002675:Child, Preschool D005190:Family D005260:Female D006801:Humans D007592:Joint Diseases D008297:Male D009154:Mutation D010375:Pedigree D010641:Phenotype D055815:Young Adult
joint swelling progressive joint destruction