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 at 2 months of age, who developed severe growth retardation and a skeletal fracture during the follow-up period. The patient's skeletal X-ray revealed findings of skeletal dysplasia. A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene. The aim of this report is to raise the awareness for Wolcott-Rallison syndrome in cases presenting with isolated neonatal diabetes. This patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes.
Akdeniz University School of Medicine, Department of Pediatrics, Division of Clinical Genetics, Antalya, Turkey. emihci@akdeniz.edu.tr
Ercan
E
Mihci
Doğa
D
Türkkahraman
Sian
S
Ellard
Sema
S
Akçurin
Iffet
I
Bircan
D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics*; D004838:Epiphyses / Q000002:abnormalities; D005091:Exons / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging; D019892:eIF-2 Kinase / Q000235:genetics*
D018389:Codon, Nonsense; C460640:EIF2AK3 protein, human; D019892:eIF-2 Kinase