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

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: Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee
Format: Article
Language:English
Published: Hindawi Limited 2021-01-01
Series:Case Reports in Immunology
Online Access:http://dx.doi.org/10.1155/2021/2023119
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spelling doaj-b524ac88ee5b4ecc83f1650d0e0477fe2021-08-30T00:00:52ZengHindawi LimitedCase Reports in Immunology2090-66172021-01-01202110.1155/2021/2023119Identification 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 CenterChildren’s Medical CenterChildren’s Medical CenterDepartment of Microbiology and ImmunologyChildren’s Medical CenterBackground. 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
collection DOAJ
language English
format Article
sources DOAJ
author Mahdieh Vahedi
Nima Parvaneh
Saeedeh Vahedi
Mohammad Shahrooei
Vahid Ziaee
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
author_facet Mahdieh Vahedi
Nima Parvaneh
Saeedeh Vahedi
Mohammad Shahrooei
Vahid Ziaee
author_sort Mahdieh Vahedi
title 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_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_sort identification of a new variant in nlrp3 gene by whole exome sequencing in a patient with cryopyrin-associated periodic syndrome
publisher Hindawi Limited
series Case Reports in Immunology
issn 2090-6617
publishDate 2021-01-01
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.
url http://dx.doi.org/10.1155/2021/2023119
work_keys_str_mv AT mahdiehvahedi identificationofanewvariantinnlrp3genebywholeexomesequencinginapatientwithcryopyrinassociatedperiodicsyndrome
AT nimaparvaneh identificationofanewvariantinnlrp3genebywholeexomesequencinginapatientwithcryopyrinassociatedperiodicsyndrome
AT saeedehvahedi identificationofanewvariantinnlrp3genebywholeexomesequencinginapatientwithcryopyrinassociatedperiodicsyndrome
AT mohammadshahrooei identificationofanewvariantinnlrp3genebywholeexomesequencinginapatientwithcryopyrinassociatedperiodicsyndrome
AT vahidziaee identificationofanewvariantinnlrp3genebywholeexomesequencinginapatientwithcryopyrinassociatedperiodicsyndrome
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