Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

• Main Authors: Bansal, Vikas, Gassenhuber, Johann, Phillips, Tierney, Oliveira, Glenn, Harbaugh, Rebecca, Villarasa, Nikki, Topol, Eric J., Seufferlein, Thomas, Boehm, Bernhard Otto
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2018
• Subjects: High-throughput Sequencing; Monogenic Diabetes
• Online Access: https://hdl.handle.net/10356/85852; http://hdl.handle.net/10220/45279
• Institution: Nanyang Technological University

Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases of diabetes. However, phenotypic heterogeneity a...