Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome
| Autor: | Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Case Reports in Immunology, Vol 2021 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2090-6609 2090-6617 |
| DOI: | 10.1155/2021/2023119 |
| Popis: | Background. NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). Case Presentation. We report a 1-year-old boy who had recurrent urticarial rash since birth and joint pain and swelling. He had a missense mutation c.G1060 T (p.A354S) in exon 5 of the NLRP3 gene which was detected by whole exome sequencing. Conclusion. A novel variant was found in the NLRP3 gene which has not been reported by now. |
| Databáze: | Directory of Open Access Journals |
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