Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes - PubMed
4 hours ago
- #monogenic diabetes
- #non-coding
- #minor spliceosome
- Bi-allelic variants in RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
- RNU6ATAC and RNU4ATAC are non-protein-coding minor spliceosome components.
- 7 individuals from 4 families with early-onset diabetes and immune dysregulation had bi-allelic RNU6ATAC variants.
- 12 unrelated individuals with infancy-onset diabetes had bi-allelic RNU4ATAC variants.
- 50% of tested individuals were islet-autoantibody positive, indicating autoimmune diabetes.
- RNA-seq showed intron retention in U12-intron-containing genes in affected individuals.
- Impaired B cell development and maturation were observed in affected individuals.
- RNU6ATAC variants cause early-onset autoimmune diabetes and immune dysregulation.
- Infancy-onset diabetes is a feature of RNU4ATAC-opathy.