Digenic inheritance and genetic modifiers
المؤلف | Deltas C. |
تاريخ الإتاحة | 2020-01-01T10:25:01Z |
تاريخ النشر | 2018 |
اسم المنشور | Clinical Genetics |
المصدر | Scopus |
الرقم المعياري الدولي للكتاب | 0009-9163 |
الملخص | Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic etiology, implicating more than 1 gene (and perhaps the environment). True DI is when biallelic or even triallelic mutations in 2 distinct genes, in cis or in trans, are necessary and sufficient to cause pathology with a defined diagnosis. In true DI, a heterozygous mutation in each of 2 genes alone is not associated with a recognizable phenotype. Well-documented diseases with true DI are so far rare and follow non-Mendelian inheritance. DI is also encountered when by serendipity, pathogenic mutations responsible for 2 distinct disease entities are co-inherited, leading to a mixed phenotype. Also, we can consider many true monogenic Mendelian conditions, which show impressively broad spectrum of phenotypes due to pseudo-DI, as a result of co-inheriting genetic modifiers (GMs). I am herewith reviewing examples of GM and embark on presenting some recent notable examples of true DI, with wider discussion of the literature. Undeniably, the advent of high throughput sequencing is bound to unravel more patients suffering with true DI conditions and elucidate many important GM, thus impacting precision medicine. - 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
راعي المشروع | Cyprus Research Promotion Foundation (co-funded by the European Regional Development Fund and the Republic of Cyprus), Grant/Award number: NEW INFRASTRUCTURE/STRATEGIC/0308/24 ; Republic of Cyprus; European Regional Development Fund. The work of Prof Deltas presented here was partly supported by the Cyprus Research Promotion Foundation through the grant NEW INFRASTRUCTURE/STRATEGIC/0308/24 (co-funded by the European Regional Development Fund and the Republic of Cyprus). |
اللغة | en |
الناشر | Blackwell Publishing Ltd |
الموضوع | co-inheritance digenic inheritance DNA variants genetic alpha effect genetic modifiers high throughput sequencing phenotypic heterogeneity polymorphisms pseudo-digenic inheritance |
النوع | Article Review |
الصفحات | 429-438 |
رقم العدد | 3 |
رقم المجلد | 93 |
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