Source
Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. skirwin@nemours.org
Abstract
OBJECTIVE:
To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation.
DESIGN:
Case report.
SETTING:
Clinical molecular diagnostics laboratory.
PATIENT(S):
Oocyte donor and individuals conceived with her oocytes.
INTERVENTION(S):
Molecular testing.
MAIN OUTCOME MEASURE(S):
Detection of TAZ mutation.
RESULT(S):
Multiple individuals affected with Barth syndrome conceived from a single oocyte donor who is a carrier of a de novo TAZ mutation.
CONCLUSION(S):
We report multiple transmissions of Barth syndrome through a single oocyte donor with a de novo TAZ mutation.