Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome

BACKGROUNDNLRP3 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...

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Published inCase reports in immunology Vol. 2021; p. 2023119
Main Authors Vahedi, Mahdieh, Parvaneh, Nima, Vahedi, Saeedeh, Shahrooei, Mohammad, Ziaee, Vahid
Format Report
LanguageEnglish
Published 01.01.2021
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Summary:BACKGROUNDNLRP3 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. CONCLUSIONA novel variant was found in the NLRP3 gene which has not been reported by now.
Bibliography:ObjectType-Case Study-2
content type line 59
SourceType-Reports-1
ObjectType-Report-1
ISSN:2090-6609
DOI:10.1155/2021/2023119