Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing.

Whole-exome sequencing is a new technology. We used it to explore the gene responsible for early-onset diabetes due to impaired insulin secretion in a family. In the INS gene, we identified the heterozygous c.188-31G>A mutation in the proband. The mutation was also identified in her two daughters with diabetes, but not in her son or her parents, all of whom were not diabetic. The substitution was located 31 bp proximal to exon three in the intron two. It was predicted to create an ectopic splice site leading to insert 29 nucleotides of intron two as an exonic sequence in the transcript. The mutation has been reported in Caucasian families and our case is the first report in Asian. Our results would help in understanding the role of the mutation in developing diabetes. This article is protected by copyright. All rights reserved.