Monogenic diabetes. Monogenic diabetes study

Wolfram syndrome (WFS) is an uncommon autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, and deafness. However, a confirmed diagnosis of WFS at the onset of diabetes may not be possible due to the progressive nature of the disease and a lack of complete clinical manifestations. 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.