Article
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.
American journal of human genetics - 2 Apr 2026
Johnson Matthew B, Russ-Silsby James, Blair Paul A, Govier Molly, Bonfield Georgia, Domingo-Vila Clara, Wakeling Matthew N, Oram Richard A, Flanagan Sarah E, Tree Timothy I M, Patel Kashyap A, Hattersley Andrew T, De Franco Elisa
Abstract excerpt
Non-protein-coding genes are emerging as critical contributors to the etiology of rare diseases, providing key insights into human biology and uncovering novel disease mechanisms. We identified 7 individuals from 4 families with early-onset diabetes (diagnosed aged <5 years) and immune dysregulatory features caused by bi-allelic variants in RNU6ATAC. RNU6ATAC encodes a small nuclear RNA (snRNA) that acts as a...
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