Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Maturity-onset Diabetes of the Young: Update on Diagnosis and Treatment

  • Jang, Kyung Mi (Department of Pediatrics, Yeungnam University College of Medicine)
  • Received : 2020.09.18
  • Accepted : 2020.10.21
  • Published : 2021.04.30
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Abstract

Maturity-onset diabetes of the young (MODY) is characterized by a heterogeneous group of monogenic diabetes. MODY has autosomal dominant inheritance, a primary defect in pancreatic β-cell, and an early onset. Discriminating MODY from type 1 or type 2 diabetes is often challenging at first. To date, 14 different disease causing mutations have been identified in MODY patients worldwide. Targeted DNA sequencing is the gold standard to diagnose MODY and their asymptomatic relatives. Next-generation sequencing may help successfully to diagnose MODY patients and identify new MODY genes. In this review, the current perspectives on diagnosis and treatment of MODY and discrepancy in the disease-causing mutations between the Asian and Caucasian patients with MODY are summarized.

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References

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