Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome
To our knowledge, our findings demonstrate, for the first time, the compound effect of two rare homozygous variants account for AGS. This also reiterates the importance of molecular and functional assessments of genomic variants identified by sequencing.
Authors
- Michael S. Salman (ORCID: https://orcid.org/0000-0002-0564-7044)
- Edward Leung (ORCID: https://orcid.org/0000-0003-3154-2403)
- Stéphane Bernier
- Anna Perez (ORCID: https://orcid.org/0000-0002-8488-3300)
- Aziz Mhanni
- Tamar Rubin
- Cheryl R. Greenberg (ORCID: https://orcid.org/0000-0002-4741-8442)
- Sandra L. Marles
- Isabelle Angers
- Donald C. Vinh (ORCID: https://orcid.org/0000-0003-1347-7767)
- Lucie Roussel (ORCID: https://orcid.org/0000-0003-4697-2270)
- Lum Peng Lim
- Yichun Sun
Institutions
- McGill University Health Centre (CA)
- Children's Hospital Research Institute of Manitoba (CA)
- University of Manitoba (CA)
- McGill University (CA)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-02-21
- DOI
- https://doi.org/10.3389/fimmu.2025.1557632
- Citations
- 2
- Primary Topic
- interferon and immune responses
- Type
- article
- Field-Weighted Citation Impact
- 1.59