Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome
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 birt...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2021/2023119 |
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| author | Mahdieh Vahedi Nima Parvaneh Saeedeh Vahedi Mohammad Shahrooei Vahid Ziaee |
| author_facet | Mahdieh Vahedi Nima Parvaneh Saeedeh Vahedi Mohammad Shahrooei Vahid Ziaee |
| author_sort | Mahdieh Vahedi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-b524ac88ee5b4ecc83f1650d0e0477fe |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-b524ac88ee5b4ecc83f1650d0e0477fe2025-02-03T01:08:51ZengWileyCase Reports in Immunology2090-66092090-66172021-01-01202110.1155/2021/20231192023119Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic SyndromeMahdieh Vahedi0Nima Parvaneh1Saeedeh Vahedi2Mohammad Shahrooei3Vahid Ziaee4Children’s Medical Center, Pediatrics Center of Excellence, Tehran, IranChildren’s Medical Center, Pediatrics Center of Excellence, Tehran, IranChildren’s Medical Center, Pediatrics Center of Excellence, Tehran, IranDepartment of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, BelgiumChildren’s Medical Center, Pediatrics Center of Excellence, Tehran, IranBackground. 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.http://dx.doi.org/10.1155/2021/2023119 |
| spellingShingle | Mahdieh Vahedi Nima Parvaneh Saeedeh Vahedi Mohammad Shahrooei Vahid Ziaee Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome Case Reports in Immunology |
| title | Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome |
| title_full | Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome |
| title_fullStr | Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome |
| title_full_unstemmed | Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome |
| title_short | Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome |
| title_sort | identification of a new variant in nlrp3 gene by whole exome sequencing in a patient with cryopyrin associated periodic syndrome |
| url | http://dx.doi.org/10.1155/2021/2023119 |
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