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The Role of Splicing in the Pathogenesis of Monogenic Diseases

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Abstract

Despite the development of exome and whole genome sequencing technologies and their routine use in the diagnosis of hereditary diseases, the efficiency of detection of pathogenic genetic variants for methods based on DNA analysis is less than 50%. One of the main reasons may be the inefficiency of these approaches in the search for genetic variants responsible for impaired pre-mRNA splicing. This review discusses the results of work on the search for splicing abnormalities in hereditary orphan diseases using RNA sequencing and the possibility of clinical application of this method.

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Funding

This work was supported by the Ministry of Science and Higher Education of the Russian Federation (Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019–2027, agreement no. 075-15-2021-1061, RF 193021X0029).

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Authors and Affiliations

  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050, Tomsk, Russia

    N. A. Skryabin, D. I. Zhigalina & V. A. Stepanov

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  1. N. A. Skryabin
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  2. D. I. Zhigalina
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Correspondence to N. A. Skryabin.

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Skryabin, N.A., Zhigalina, D.I. & Stepanov, V.A. The Role of Splicing in the Pathogenesis of Monogenic Diseases. Russ J Genet 58, 1208–1215 (2022). https://doi.org/10.1134/S1022795422100088

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