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.