title: 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.
authors.affiliation: a Department of Neurology , Liaocheng People's Hospital , Liaocheng , Shandong , P.R. China and.
authors.forename: Haixin
authors.initials: H
authors.lastname: Yang
authors.affiliation: b State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology , Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University , Shanghai , P.R. China.
authors.forename: Rui
authors.initials: R
authors.lastname: Liu
authors.affiliation: b State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology , Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University , Shanghai , P.R. China.
authors.forename: Chuan-Chao
authors.initials: CC
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D054629:Genome, Mitochondrial; D006239:Haplotypes; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D009154:Mutation; D059645:Mutation Rate; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D011110:Polymorphism, Genetic
keywords: Database; LHON; hearing loss; mitochondrial genome; pathogenic mutation