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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation.
- Source :
-
BMC Medical Genomics . 5/25/2022, Vol. 15 Issue 1, p1-5. 5p. - Publication Year :
- 2022
-
Abstract
- Background: The 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. Method: Based 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. Results: An 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. Conclusion: The 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17558794
- Volume :
- 15
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- BMC Medical Genomics
- Publication Type :
- Academic Journal
- Accession number :
- 157067785
- Full Text :
- https://doi.org/10.1186/s12920-022-01276-y