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🔗 Source: hurlab.org
📊 Size: 795 KB
👤 Author: Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Lu
⬇️ Downloads: 97

Summary

IFIH1 gain-of-function mutations cause a spectrum of autoinflammatory phenotypes, including Aicardi-Goutières syndrome and Singleton Merten syndrome, characterized by enhanced type I interferon signaling. A study of 74 individuals from 51 families identified 27 likely pathogenic mutations in IFIH1, which cluster close to the ATP binding region of the protein. The mutations were associated with variable expression and nonpenetrance, and 13.5% of mutation carriers were clinically asymptomatic. The study confirms the importance of IFIH1 gain-of-function in type I interferonopathy and highlights the challenges of assigning molecular pathogenicity due to variability in disease expression and nonpenetrance.

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Description

IFIH1 gain-of-function mutations cause a spectrum of autoinflammatory phenotypes, including Aicardi-Goutières syndrome and Singleton Merten syndrome,...

Technical Information

  • File Format: PDF
  • File Size: 795 KB
  • Pages: 20
  • Language: EN
  • Author: Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Lu
  • Total Downloads: 97
  • Last Updated: 2 weeks ago

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