ESPE Abstracts

Background: Wolcott Rallison syndrome is a rare autosomal recessive disorder, characterized by early onset diabetes, skeletal dysplasia and growth retardation. Fewer than 100 cases have been reported in literature. We report a case of Wolcott Rallison syndrome caused by a novel mutation.

Objective and hypotheses: To report a novel mutation of EIF2AK3 gene, which has never been reported previously.

Method: Blood sample of a suspected case of infantile diabetes, along with blood samples of both her parents were sent to Royal Devon & Exeter NHS foundation trust, England, for genetic studies. Sequence analysis of EIF2AK3 gene was done. Analysis of exons 1, 6, 7, 9, 11, 14, 16, and 17 of the EIF2AK3 gene was done by Sanger sequencing.

Results: Index case was found to be homozygous for a novel EIF2AK3 missense mutation, p.R1064Q. This mutation has never been reported previously, and in silico evidence suggests that it is likely to be pathogenic. Both of the parents were found to be heterozygotes for this same mutation.

Conclusion: The results of genetic studies are consistent with the diagnosis of Wolcott Rallison syndrome.