EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome

  title={EIF2AK3, encoding translation initiation factor 2-$\alpha$ kinase 3, is mutated in patients with Wolcott-Rallison syndrome},
  author={Marcel Delepine and Marc Nicolino and Timothy G Barrett and Mahamadee Golamaully and G. Mark Lathrop and C{\'e}cile Julier},
  journal={Nature Genetics},
Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder characterized by permanent neonatal or early infancy insulin-dependent diabetes. Epiphyseal dysplasia, osteoporosis and growth retardation occur at a later age. Other frequent multisystemic manifestations include hepatic and renal dysfunction, mental retardation and cardiovascular abnormalities. On the basis of two consanguineous families, we mapped WRS to a region of less than 3 cM on chromosome 2p12, with maximal evidence… 

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

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