Document Detail


Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.
MedLine Citation:
PMID:  17241629     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Susan M Kirwin; Kathy M Vinette; Sharon B Schwartz; Vicky L Funanage; Iris L Gonzalez
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-01-22
Journal Detail:
Title:  Fertility and sterility     Volume:  87     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-13     Completed Date:  2007-05-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  976.e5-7     Citation Subset:  IM    
Affiliation:
Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA. skirwin@nemours.org
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MeSH Terms
Descriptor/Qualifier:
Cardiomyopathy, Dilated / etiology,  genetics*
Child, Preschool
Female
Genetic Diseases, X-Linked / etiology,  genetics*
Humans
Male
Mutation*
Oocyte Donation / adverse effects*
Proteins / genetics*
Syndrome
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/Proteins; 0/TAZ protein, human; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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