Identification of Novel Mutation in EIF2AK3 Gene as a Causal Variant in a Family With Rare Disease

Abstract

Wolcott-Rallison syndrome (WRS) is now identified as the most frequent cause of neonatal/early onset diabetes in patients that initiated before 6 months of age. Inheritance pattern of disease is autosomal recessive and most of patients are from populations with frequent consanguineous marriages. WRS is caused by mutations in EIF2AK3 gene which encodes eukaryotic translation initiation factor 2a kinase. Several mutations have been reported in this gene and they are almost non-sense, frameshift, missense, and splice site. Here, we analyzed theEIF2AK3 gene in an Iranian girl suspicious for WRS. Sequencing analysis of the gene identified a homozygous novel non-sense mutation in exon 9 of the gene, Y479X.




J Med Cases. 2017;8(3):102-104
doi: https://doi.org/10.14740/jmc2597e