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Neuhofer, C. ; Prokisch, H.

Digenic inheritance in rare disorders and mitochondrial disease-crossing the frontier to a more comprehensive understanding of etiology.

Int. J. Mol. Sci. 25:4602 (2024)

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Our understanding of rare disease genetics has been shaped by a monogenic disease model. While the traditional monogenic disease model has been successful in identifying numerous disease-associated genes and significantly enlarged our knowledge in the field of human genetics, it has limitations in explaining phenomena like phenotypic variability and reduced penetrance. Widening the perspective beyond Mendelian inheritance has the potential to enable a better understanding of disease complexity in rare disorders. Digenic inheritance is the simplest instance of a non-Mendelian disorder, characterized by the functional interplay of variants in two disease-contributing genes. Known digenic disease causes show a range of pathomechanisms underlying digenic interplay, including direct and indirect gene product interactions as well as epigenetic modifications. This review aims to systematically explore the background of digenic inheritance in rare disorders, the approaches and challenges when investigating digenic inheritance, and the current evidence for digenic inheritance in mitochondrial disorders.

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Publication type Article: Journal article

Document type Review

Corresponding Author

Keywords Digenic Inheritance ; Mitochondrial Disorders ; Molecular Genetics; Transfer Rnaleu(uur) Gene; Bartter-syndrome; Beta-subunit; Mutation; Association; Deafness; Protocadherin-15; Methylation; Cadherin-23; Diagnosis

ISSN (print) / ISBN 1422-0067

e-ISSN 1661-6596

Journal International Journal of Molecular Sciences

Quellenangaben Volume: 25, Issue: 9, Article Number: 4602

Publisher MDPI

Publishing Place Basel

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants BMBF (German Federal Ministry of Education and Research)