RGD Reference Report - EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. - Rat Genome Database

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

Authors: Delepine, M  Nicolino, M  Barrett, T  Golamaully, M  Lathrop, GM  Julier, C 
Citation: Delepine M, etal., Nat Genet 2000 Aug;25(4):406-9.
RGD ID: 734923
Pubmed: PMID:10932183   (View Abstract at PubMed)
DOI: DOI:10.1038/78085   (Journal Full-text)

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 of linkage and homozygosity at 4 microsatellite markers within an interval of approximately 1 cM. The gene encoding the eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3) resides in this interval; thus we explored it as a candidate. We identified distinct mutations of EIF2AK3 that segregated with the disorder in each of the families. The first mutation produces a truncated protein in which the entire catalytic domain is missing. The other changes an amino acid, located in the catalytic domain of the protein, that is highly conserved among kinases from the same subfamily. Our results provide evidence for the role of EIF2AK3 in WRS. The identification of this gene may provide insight into the understanding of the more common forms of diabetes and other pathologic manifestations of WRS.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
EIF2AK3HumanWolcott-Rallison syndrome  IAGP DNA:insertion more ...RGD 
Eif2ak3RatWolcott-Rallison syndrome  ISOEIF2AK3 (Homo sapiens)DNA:insertion more ...RGD 
Eif2ak3MouseWolcott-Rallison syndrome  ISOEIF2AK3 (Homo sapiens)DNA:insertion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Eif2ak3  (eukaryotic translation initiation factor 2 alpha kinase 3)

Genes (Mus musculus)
Eif2ak3  (eukaryotic translation initiation factor 2 alpha kinase 3)

Genes (Homo sapiens)
EIF2AK3  (eukaryotic translation initiation factor 2 alpha kinase 3)


Additional Information