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

TL;DR

A baby was born successfully after genetic testing identified a rare mitochondrial DNA mutation in embryos.

Contribution

This is the first reported case of a successful birth after preimplantation testing for the m.10197G>A mutation.

Findings

An embryo with less than 5% mutant load was selected and resulted in a live birth.

The mutant load in embryos was skewed to the extremes, similar to patterns seen in common mutations.

Abstract

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.

Figures