Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.

Abstract

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.

• Authors: Salem Alawbathani, Amit Kawalia, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Sebahattin Cirak
• Journal: Cold Spring Harbor molecular case studies (Cold Spring Harb Mol Case Stud) Vol. 4 Issue 1 (02 2018) ISSN: 2373-2873 [Electronic] United States
• PMID: 29258992 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2018 Alawbathani et al.; Published by Cold Spring Harbor Laboratory Press.

Chemical References

• CCN Intercellular Signaling Proteins
• CCN6 protein, human

Topics

• Base Sequence
• CCN Intercellular Signaling Proteins (genetics)
• Child, Preschool
• Family
• Female
• Humans
• Joint Diseases (diagnosis, diagnostic imaging, genetics, pathology)
• Male
• Mutation (genetics)
• Pedigree
• Phenotype
• Young Adult