Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Digenic or oligogenic mutations in presumed monogenic disorders: A review

  • Afif Ben-Mahmoud (Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University) ;
  • Vijay Gupta (Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University) ;
  • Cheol-Hee Kim (Department of Biology, Chungnam National University) ;
  • Lawrence C Layman (Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University) ;
  • Hyung-Goo Kim (Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University)
  • Received : 2023.05.31
  • Accepted : 2023.06.06
  • Published : 2023.06.30
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Abstract

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

Keywords

Acknowledgement

This work was supported by an internal grant IGP5 of Qatar Biomedical Research Institute.

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