ArticleMolecular genetics & genomic medicine2024
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Unraveling the Systems Biology of Curcumin: A Mini-review of its Anti-diabetic Potential through Network Pharmacology.Cell biochemistry and biophysics · 2026Review
- The Burden of Non-Infectious Organ-Specific Immunopathology in Pediatric Common Variable Immunodeficiency.International journal of molecular sciences · 2025Review
- Successful anti-IL-6 treatment for interstitial lung disease associated with STAT3 gain-of-function: a case report and literature review.Frontiers in pediatrics · 2025Article
- A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.Molecular genetics & genomic medicine · 2024Article
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8 authors at 2 institutions in 1 country.
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Abstract
backgroundGermline gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) gene lead to a rare inherited disorder characterized by early-onset multiorgan autoimmunity.
methodsWe described a Chinese patient with infantile-onset diabetes and multiorgan autoimmunity. The patient presented with early-onset type 1 diabetes and autoimmune hypothyroidism at 7 months. During the 7.5-year follow-up, she developed pseudo-celiac enteropathy at 1 year of age and showed severe growth retardation. Whole-exome sequencing was performed and the novel variant was further assessed by in vitro functional assays.
resultsWhole-exome sequencing revealed a novel variant (c.1069G>A, p.Glu357Lys) in the DNA-binding domain of STAT3. In vitro functional studies revealed that p.Glu357Lys was a GOF variant by increasing STAT3 transcriptional activity and phosphorylation. In addition, the STAT3 Glu357Lys variant caused dysregulation of insulin gene expression by enhancing transcriptional inhibition of the insulin gene enhancer binding protein factor 1 (ISL1).
conclusionIn 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.
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