Wolcott-Rallison syndrome
OMIM:226980Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | EIF2AK3 |
|---|---|
| Reference transcript | NM_004836.5 |
| DNA Change | c.851dupA |
| A.A. Change | p.Pro285AlafsX3 |
| Exon/Intron | exon 5 |
| Mutation Type | duplication |
| Reference | Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G.Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. |