Mitochondrial DNA variants in genomic data diagnostic uplifts and predictive implications

Macken, William L., Lucassen, Anneke M., Hanna, Michael G. and Pitceathly, Robert D.S. (2021) Mitochondrial DNA variants in genomic data diagnostic uplifts and predictive implications. Nature Reviews Genetics, 22 (9), 547-548. (doi:10.1038/s41576-021-00381-5).

Record type: Letter

Abstract

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.

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Accepted/In Press date: 28 May 2021

e-pub ahead of print date: 28 May 2021

Additional Information: Funding Information: R.D.S.P. is supported by a Medical Research Council (UK) Clinician Scientist Fellowship (MR/S002065/1). W.L.M., M.G.H. and R.D.S.P. receive funding from a Medical Research Council (UK) strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) (MR/S005021/1). A.M.L. is supported by funding from a Wellcome Trust collaborative award 208053/Z/17/Z.