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

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Item Type:Article
Title:Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
Creators Name:Alawbathani, S., Kawalia, A., Karakaya, M., Altmüller, J., Nürnberg, P. and Cirak, S.
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.
Keywords:Base Sequence, CCN Intercellular Signaling Proteins, Preschool Child, Family, Joint Diseases, Mutation, Pedigree, Phenotype
Source:Cold Spring Harbor Molecular Case Studies
ISSN:2373-2873
Publisher:Cold Spring Harbor Laboratory Press
Volume:4
Number:1
Page Range:a002139
Date:19 December 2017
Official Publication:https://doi.org/10.1101/mcs.a002139
PubMed:View item in PubMed

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