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

Abstract

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disordercharacterized by early-onset diabetes, spondyloepiphyseal dysplasia,tendency to skeletal fractures secondary to osteopenia, and growthretardation. Mutations in the eukaryotic translation initiation factor 2αkinase (EIF2AK3)gene are responsible for this disorder. Here, wedescribe a boy with neonatal diabetes, diagnosed at 2 months of age,who developed severe growth retardation and a skeletal fracture duringthe follow-up period. The patient’s skeletal X-ray revealed findings ofskeletal dysplasia. A clinical diagnosis of WRS was confirmed by theidentification of a novel homozygous nonsense mutation (R491X) in exon9 of the EIF2AK3 gene. The aim of this report is to raise the awarenessfor Wolcott-Rallison syndrome in cases presenting with isolatedneonatal diabetes. This patient demonstrates that the other findings ofthis syndrome might be obscured by a diagnosis of isolated neonataldiabetes. Conflict of interest:None declared.