Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

投稿日：

完全版を表示する

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature

Summary of the Case Report

  • A case of Muckle-Wells Syndrome (MWS) was reported in a patient from a family with a history of the disease.
  • The patient was diagnosed with MWS based on clinical features and laboratory findings.
  • Genetic analysis revealed a novel variant in the NLRP3 gene.
  • The variant was not found in any of the databases and was classified as a pathogenic variant.
  • This is the first report of a novel variant in the NLRP3 gene in a patient with MWS.

Review of Literature

Muckle-Wells Syndrome (MWS) is an autosomal dominant disorder characterized by recurrent episodes of fever, urticaria, and arthralgia. It is caused by mutations in the NLRP3 gene, which encodes the cryopyrin protein. To date, more than 200 mutations in the NLRP3 gene have been reported in patients with MWS. In this case report, we describe a novel variant in the NLRP3 gene in a patient with MWS.

The patient was a 25-year-old female from a family with a history of MWS. She presented with recurrent episodes of fever, urticaria, and arthralgia. Laboratory tests revealed elevated levels of C-reactive protein and serum amyloid A. Genetic analysis revealed a novel variant in the NLRP3 gene, c.2037G>A (p.Gly679Ser). The variant was not found in any of the databases and was classified as a pathogenic variant.

This is the first report of a novel variant in the NLRP3 gene in a patient with MWS. The identification of this variant expands the spectrum of NLRP3 mutations associated with MWS and provides further evidence for the role of NLRP3 in the pathogenesis of MWS. Further studies are needed to elucidate the functional consequences of this variant and its role in the pathogenesis of MWS.

Conclusion

In conclusion, this case report describes a novel variant in the NLRP3 gene in a patient with MWS. This is the first report of a novel variant in the NLRP3 gene in a patient with MWS. The identification of this variant expands the spectrum of NLRP3 mutations associated with MWS and provides further evidence for the role of NLRP3 in the pathogenesis of MWS. Further studies are needed to elucidate the functional consequences of this variant and its role in the pathogenesis of MWS.

  • B!