title: Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.
abstract: 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.
authors.affiliation: Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. skirwin@nemours.org
authors.forename: Susan M
authors.initials: SM
authors.lastname: Kirwin
authors.forename: Kathy M
authors.initials: KM
authors.lastname: Vinette
authors.forename: Sharon B
authors.initials: SB
authors.lastname: Schwartz
authors.forename: Vicky L
authors.initials: VL
authors.lastname: Funanage
authors.forename: Iris L
authors.initials: IL
authors.lastname: Gonzalez
mesh_terms: 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*
chemical_list: D011506:Proteins; D014157:Transcription Factors; D000217:Acyltransferases; C108675:TAFAZZIN protein, human