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KMID : 1189120230200010015
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대한의학유전학회지
2023 Volume.20 No. 1 p.15 ~ p.24
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Digenic or oligogenic mutations in presumed monogenic disorders: A review
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Afif Ben-Mahmoud
Vijay Gupta
Kim Cheol-Hee
Lawrence C Layman
Kim Hyung-Goo
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Abstract
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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.
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KEYWORD
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Monogenic, Digenic, Oligogenic traits
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