ArticleBMC medical genomics2022
Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.
Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene.The Laryngoscope · 2025Observational
- High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.Scientific reports · 2024Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. Studies have suggested that A1555G mutations have multiple origins, although there is no direct evidence of this. Here, we identified a family with a de novo A1555G mutation.
methodBased on detailed mtDNA analyses of the family members using next-generation sequencing with 1% sensitivity to mutated mtDNA, the level of heteroplasmy in terms of the A1555G mutation in blood DNA samples was quantified.
resultsAn individual harbored a heterogeneous A1555G mutation, at 28.68% heteroplasmy. The individual's son was also a heterogeneous carrier, with 7.25% heteroplasmy. The individual's brother and mother did not carry the A1555G mutation, and both had less than 1% mitochondrial 12S rRNA A1555G heteroplasmy.
conclusionThe A1555G mutation arose de novo in this family. This is the first report of a family with a de novo A1555G mutation, providing direct evidence of its multipoint origin. This is important for both diagnostic investigations and genetic counselling.
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