WISP3 mutation associated with pseudorheumatoid dysplasia
| Autor: | M. Reza Sailani, Safoura Mazrouei, Anil Narasimha, Jonathan A. Bernstein, Amin Zia, Janet Linnea Lynch, Omid Aryani, Michael Snyder, Inlora Jingga, James Chappell |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
030203 arthritis & rheumatology
0301 basic medicine Research Report Pathology medicine.medical_specialty Spondyloepimetaphyseal dysplasia Consanguineous family business.industry Articular cartilage General Medicine medicine.disease Progressive pseudorheumatoid dysplasia WISP3 Gene spondyloepimetaphyseal dysplasia 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Dysplasia Mutation (genetic algorithm) Medicine Multiple skeletal anomalies business multiple skeletal anomalies |
| Zdroj: | Cold Spring Harbor Molecular Case Studies |
| ISSN: | 2373-2873 |
| Popis: | Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness. Here we report genetic characterization of a consanguineous family segregating an uncharacterized from of skeletal dysplasia. Whole-exome sequencing of four affected siblings and their parents identified a loss-of-function homozygous mutation in the WISP3 gene, leading to diagnosis of PPD in the affected individuals. The identified variant (Chr6: 112382301; WISP3:c.156C>A p.Cys52*) is rare and predicted to cause premature termination of the WISP3 protein. |
| Databáze: | OpenAIRE |
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