Journal
GENETICS IN MEDICINE
Volume 21, Issue 12, Pages 2823-2826Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41436-019-0568-0
Keywords
mitochondrial genome; genetic testing; genetic counseling; mitochondrial diseases; paternal inheritance
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Funding
- New South Wales (NSW) Office of Health and Medical Research Council Sydney Genomics Collaborative grant
- National Health and Medical Research Council (NHMRC) [1026891]
- NHMRC [11022896]
- NSW Health Early-Mid Career Fellowship
- Victorian Government's Operational Infrastructure Support Program
- Crane family
- Perkins family
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Purpose: A recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to concerns by health-care professionals and patients regarding investigations and genetic counseling of families with pathogenic mitochondrial DNA variants. Our aim was to examine the frequency of this phenomenon by investigating a cohort of patients with suspected mitochondrial disease. Methods: We studied genome sequencing (GS) data of DNA extracted from blood samples of 41 pediatric patients with suspected mitochondrial disease and their parents. Results: All of the mtDNA variants in the probands segregated with their mother or were apparently de novo. There were no variants that segregated only with the father and none of these families showed evidence of biparental inheritance of their mtDNA. Conclusion: Paternal mitochondrial transmission is unlikely to be a common occurrence and therefore at this point we would not recommend changes in clinical practice.
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