Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.

Abstract

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.

• Authors: Ercan Mihci, Doğa Türkkahraman, Sian Ellard, Sema Akçurin, Iffet Bircan
• Journal: Journal of clinical research in pediatric endocrinology (J Clin Res Pediatr Endocrinol) Vol. 4 Issue 2 Pg. 101-3 (Jun 2012) ISSN: 1308-5735 [Electronic] Turkey
• PMID: 22672868 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon, Nonsense
• EIF2AK3 protein, human
• eIF-2 Kinase

Topics

• Base Sequence
• Codon, Nonsense
• DNA Mutational Analysis
• Diabetes Mellitus, Type 1 (diagnosis, genetics)
• Epiphyses (abnormalities)
• Exons (genetics)
• Homozygote
• Humans
• Infant
• Lumbar Vertebrae (diagnostic imaging)
• Male
• Osteochondrodysplasias (diagnosis, genetics)
• Radiography
• Thoracic Vertebrae (diagnostic imaging)
• eIF-2 Kinase (genetics)