Searching the co-occurrence of pathogenic mutations for Leber’s hereditary optic neuropathy and hearing loss in more than 26,000 whole mitochondrial genomes

Abstract

The co-occurrence of pathogenic or candidate mutations for Leber’s hereditary optic neuropathy (LHON) and hearing loss has long been suggested to be a rare incident. The “rare” is probably caused by inadequate database searches. In this study, we created and released a comprehensive database with detailed information of haplogroup, variants, coding sites, and potential pathogenic mutations for more than 26,000 whole mitochondrial genomes. We found the co-occurrence in more than 200 individuals including not only LHON or hearing loss patients but also individuals sampled from general populations with various haplogroup backgrounds. The results highlighted the significant importance of adequate database searching in the genetic analysis of mitochondrial disorders.

• Database
• hearing loss
• LHON
• mitochondrial genome
• pathogenic mutation

Acknowledgements

We thank Prof. Yonggang Yao and Dr. Long Fan of Kunming Institute of Zoology for help fixing the bugs in our using MitoTool.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Supplementary material available online. Supplementary Table S1.