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

CONCLUSION: In the current study, we describe clinical manifestations and identify a novel STAT3 GOF variant (c.1069G>A) in a Chinese patient. This activating variant impairs insulin expression by increasing transcriptional inhibition of its downstream transcription factor ISL1, which could be involved in the pathogenesis of early-onset diabetes.PMID:38404237 | PMC:PMC10895381 | DOI:10.1002/mgg3.2407
Source: Molecular Medicine - Category: Molecular Biology Authors: Source Type: research