WFS1 gene associated diabetes phenotypes and identification of a founder mutation in Southern India.. Next Generation Sequencing of WFS1 gene

This report presents eleven patients positive for WFS1 variants identified by Next-generation sequencing of seventeen monogenic diabetes gene panel. Nine patients were positive for homozygous WFS1 mutations, including a probable founder mutation WFS1(NM_006005.3): c.1107_1108insA (p.Ala370SerfsTer173) in three families from south India. We have also identified rare heterozygous WFS1 variants in two patients with young onset diabetes. NGS-based multigene panel screening may aid in the early diagnosis of patients with WFS1 variants and provide a basis for personalized therapeutic options in the near future.