Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.
OBJECTIVE
To report recurrent transmissions of Barth syndrome through a single oocyte donor carrying a de novo TAZ mutation.


METHODS
Case report.


METHODS
Clinical molecular diagnostics laboratory.


METHODS
Oocyte donor and individuals conceived with her oocytes.


METHODS
Molecular testing.


METHODS
Detection of TAZ mutation.


RESULTS
Multiple individuals affected with Barth syndrome conceived from a single oocyte donor who is a carrier of a de novo TAZ mutation.


CONCLUSIONS
We report multiple transmissions of Barth syndrome through a single oocyte donor with a de novo TAZ mutation.
Kirwin
Susan M
SM
Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. skirwin@nemours.org
Vinette
Kathy M
KM
Schwartz
Sharon B
SB
Funanage
Vicky L
VL
Gonzalez
Iris L
IL
D000217:Acyltransferases; D002311:Cardiomyopathy, Dilated / Q000209:etiology / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018587:Oocyte Donation / Q000009:adverse effects*; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human