Abstract

Objective: Mutations in the EIF2AK3 gene are known to cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. To date, studies on WRS have revealed several mutation types leading to onset of the disease. In the present study, we analyzed the EIF2AK3 gene in a 10-year-old WRS patient and his parents to study the clinical features and the mechanism for genetic onset of WRS.

Method: A patient diagnosed with WRS and his parents were chosen as research subjects. PCR techniques were used to amplify the 17 exons of the EIF2AK3 gene and DNA direct assay techniques were used for gene mutation analysis.

Result: Gene mutation analysis revealed a 1798 A/T heterozygous mutation in exon 9 of the patient’s EIF2AK3 gene. This nonsense mutation can lead to a C-stop and result in a truncated protein of 532 amino acid residues in length (C532STOP). The patient’s parents are nonconsanguineous and the patient’s father carries the same mutation, while the mother carries no EIF2AK3 mutation.

Conclusion: ETF2AK3 gene mutations can lead to the onset of WRS. The study results provide knowledge that furthers our understanding of the genetic mechanism of WRS.