A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation

©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Dear Editor, Wolcott-Rallison syndrome (WRS; Online Mendelian Inheritance in Man 226980) is an autosomal recessively inherited disorder characterized by neonatal insulin-dependent diabetes mellitus, skeletal dysplasia (epiphyseal dysplasia), acute hepatic and/or renal dysfunction, exocr...

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed ...

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth retardation. Mutations in the EIF2AK3 gene, encoding the eukaryotic initiation factor 2alpha-kinase 3 (EIF2AK3), have been found in WRS patients. Here we describe a girl who came to our attention at 2 months of age with severe hypertonic...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Wolcott-Rallison syndrome

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous paren...