EIF2AK3 GENE ANALYSIS IN WOLCOTT RALLISON SYNDROME
Wolcott Rallison Syndrome is a rare autosomal recessive disorder characterised by epiphyseal dysplasia and permanent insulin requiring diabetes developing in the newborn period or early infancy (Delepine et al 2000 Nat Genet 25; 406-409). Diabetes management is complicated by recurrent and unpredictable episodes of hypoglycaemia. Other clinical features are common and show variability between Wolcott Rallison Syndrome cases. They include osteopenia/osteoporosis, mental retardation, hepatic and kidney dysfunction, cardiac abnormalities, exocrine pancreatic dysfunction, and neutropenia. The syndrome results from variants in the EIF2AK3 gene encoding the eukaryotic translation initiation factor 2-a kinase 3.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.
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