WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Aaron ChaplaJabasteen JohnsonSophy KorulaNisha MohanAnish AhmedDeny VargheseParthiban RangasamyLavanya RavichandranFelix JebasinghKrishna Kumar AgrawalNoel SomasundaramAsha Hesarghatta ShyamasunderSarah MathaiAnna SimonSujeet JhaSubhankar ChowdryRadha VenkatesanPalany RaghupathyNihal ThomasPublished in: The Journal of clinical endocrinology and metabolism (2022)
These results project the need for NGS-based parallel multigene testing as a tool for early diagnosis of WFS and identify heterozygous WFS1 variants implicated in young-onset diabetes.