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Master Thesis

Single-fiber studies for assigning pathogenicity of eight unclassified mitochondrial DNA variants associated with mitochondrial cytopathies phenotypes

Abstract : Whole mtDNA sequencing is now systematically used in clinical laboratories to screen patients with phenotype suggestive of mitochondrial disorders. NGS has significantly increased the number of pathogenic mtDNA variants identified. In the same time, the number of VUS has increased even more and their interpretation remains challenging. Correct classification of variant pathogenicity is essential for an optimal patient management including treatment and genetic counselling.
Here we describe the characterization, by single-fiber study, of seven heteroplasmic mtDNA variants, including three novel variants. Through the application of the pathogenicity scoring system, we have classified four variants as “definitely pathogenic” (m.590A>G, m.12293G>A, m.15958A>T, m.9166T>C). Two variants remain “possibly pathogenic” (m.5672T>C, m.4327T>C) but a future report of those variants in separate family would be sufficient for reclassification as “definitely pathogenic”. We also illustrate, with one patient, the contribution of single-fiber studies to the diagnostic strategy, in patients with pathogenic variants at low level of heteroplasmy.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02987196
Contributor : Bibliothèque Universitaire de Médecine Nice <>
Submitted on : Tuesday, November 3, 2020 - 4:16:48 PM
Last modification on : Wednesday, February 24, 2021 - 3:11:12 AM

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  • HAL Id : dumas-02987196, version 1

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Elamine Zereg. Single-fiber studies for assigning pathogenicity of eight unclassified mitochondrial DNA variants associated with mitochondrial cytopathies phenotypes. Médecine humaine et pathologie. 2019. ⟨dumas-02987196⟩

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