Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A

Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of <5%, and transfer resulted in a live birth. The mutant load o...

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Bibliographic Details
Published inHuman genome variation Vol. 12; no. 1; pp. 7 - 3
Main Authors Mizuguchi, Yuki, Sueoka, Kou, Sato, Suguru, Tanaka, Mamoru
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 01.04.2025
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/2489/1512
692/699/2732/1577
Amniocentesis
Amniotic fluid
Biomedical and Life Sciences
Biomedicine
Birth
Data Report
Embryos
Encephalopathy
Gene Expression
Gene Function
Gene Therapy
Genetic counseling
Genetic screening
Genetic testing
Genomes
Gynecology
Health care
Human Genetics
Mitochondrial DNA
Molecular Medicine
Mutants
Mutation
Obstetrics
Public health
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Summary:Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of <5%, and transfer resulted in a live birth. The mutant load of embryos diagnosed in this case was skewed to the extremes. Skewed segregation patterns have been observed in common mutations, but this case suggests that the same phenomenon may be seen in this rare mutation.
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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00311-5