A novel gain ‐of‐function STAT3 variant in infantile‐onset diabetes associated with multiorgan autoimmunity

ConclusionIn the current study, we describe clinical manifestations and identify a novelSTAT3 GOF variant (c.1069G>A) in a Chinese patient. This activating variant impairs insulin expression by increasing transcriptional inhibition of its downstream transcription factorISL1, which could be involved in the pathogenesis of early-onset diabetes.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research