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 Publisher

Vahedi M¹ ; Parvaneh N⁴ ; Vahedi S² ; Shahrooei M³ ; Ziaee V⁵

Source: Case Reports in Immunology Published:2021

Abstract

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. © 2021 Mahdieh Vahedi et al.

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Style	Citing Format
MLA	Vahedi M, et al.. "Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome." Case Reports in Immunology, vol. 2021, no. , 2021, pp. -.
APA	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V (2021). Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome. Case Reports in Immunology, 2021(), -.
Chicago	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V. "Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome." Case Reports in Immunology 2021, no. (2021): -.
Harvard	Vahedi M et al. (2021) 'Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome', Case Reports in Immunology, 2021(), pp. -.
Vancouver	Vahedi M, Parvaneh N, Vahedi S, Shahrooei M, Ziaee V. Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome. Case Reports in Immunology. 2021;2021():-.
BibTex	@article{ author = {Vahedi M and Parvaneh N and Vahedi S and Shahrooei M and Ziaee V}, title = {Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome}, journal = {Case Reports in Immunology}, volume = {2021}, number = {}, pages = {-}, year = {2021} }
RIS	TY - JOUR AU - Vahedi M AU - Parvaneh N AU - Vahedi S AU - Shahrooei M AU - Ziaee V TI - Identification of a New Variant in Nlrp3 Gene by Whole Exome Sequencing in a Patient With Cryopyrin-Associated Periodic Syndrome JO - Case Reports in Immunology VL - 2021 IS - SP - EP - PY - 2021 ER -

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