J Genet Med.
2023 Jun;20(1):15-24. 10.5734/JGM.2023.20.1.15.
Digenic or oligogenic mutations in presumed monogenic disorders: A review
- Affiliations
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- 1Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar
- 2Department of Biology, Chungnam National University, Daejeon, Korea
- 3Section of Reproductive Endocrinology, Infertility, & Genetics, Department of Obstetrics & Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia, USA
- 4Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia, USA
- 5Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia, USA
- KMID: 2544153
- DOI: http://doi.org/10.5734/JGM.2023.20.1.15
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.
