Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be conside...

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Bibliographic Details
Published in:Nature reviews. Genetics 2021-09, Vol.22 (9), p.547-548
Main Authors: Macken, William L., Lucassen, Anneke M., Hanna, Michael G., Pitceathly, Robert D. S.
Format: Article
Language:English
Subjects:
631/208/212/2301
631/208/514/1948
631/208/726/2129
631/208/726/649
692/699/2743
Agriculture
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Cancer Research
Comment
Diagnosis
DNA sequencing
DNA, Mitochondrial - genetics
Gene Function
Genetic aspects
Genetic variation
Genomes
Genomics
Genomics - methods
Health aspects
Human Genetics
Humans
Medical diagnosis
Methods
Mitochondrial diseases
Mitochondrial Diseases - diagnosis
Mitochondrial Diseases - genetics
Mitochondrial DNA
Molecular diagnostic techniques
Molecular Diagnostic Techniques - methods
Mutation
Nucleotide sequencing
Phenotypes
Rare diseases
Whole genome sequencing
Whole Genome Sequencing - methods
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Description
Summary:A broad spectrum of rare disease presentations can now be investigated by analysing mitochondrial DNA (mtDNA) variants from whole-genome sequencing (WGS) data. However, mtDNA mutations may cause unanticipated, extended phenotypes and have reproductive implications. We recommend that these be considered by patients and clinicians before embarking on WGS. Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.
ISSN:1471-0056
1471-0064
DOI:10.1038/s41576-021-00381-5