A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome
Authors' conclusion
We report the first deep intronic EIF2AK3 variant causing WRS
Study context
- Population
- Individuals referred to the Exeter Genomics Laboratory with diabetes diagnosed at ≤2 years and ≥1 additional feature consistent with Wolcott-Rallison syndrome (WRS) (hepatic dysfunction, skeletal abnormalities or developmental delay), no genetic cause after testing all known early-onset diabetes genes
- Participants
- 116 individuals
- Outcome
- Rare homozygous intronic EIF2AK3 variants
Methodological detailsgenome-sequencing screen, minigene exon-trapping assay, in silico splicing prediction (SpliceAI)
- Genome-sequencing screen
- Minigene exon-trapping assay
- In silico splicing prediction (SpliceAI)
Main finding
As reported in the abstract
Rare homozygous intronic EIF2AK3 variants identified in two siblings
2
Variant predicted to disrupt splicing in silico: c.1651-180G>T
1
Further findings
Phenotype of the two siblings (consanguineous parents)
- Age at diabetes diagnosis
- 1 year and 21 weeks
- Hepatic dysfunction, skeletal abnormalities, developmental delay, thyroid dysfunction, hip dysplasia and gait abnormalities
Original publication
A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome. Diabet Med. Published 3 September 2026. doi:10.
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