Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene

• Main Authors: Boehm, Bernhard Otto, Kratzer, Wolfgang, Bansal, Vikas
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Transcription Factor PAX6; Diabetic Neuropathy
• Online Access: https://hdl.handle.net/10356/165636
• Institution: Nanyang Technological University

Pathogenic variants in more than 14 genes have been implicated in monogenic diabetes; however, a significant fraction of individuals with young-onset diabetes and a strong family history of diabetes have unknown genetic etiology. To identify novel pathogenic alleles for monogenic diabetes, we perfor...