X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene

Prenatal Diagnosis

Volumn 26, Issue 5, 2006, Pages 462-465

  Brady, April N ^a   Shehata, Bahig M ^a,b   Fernhoff, Paul M ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

Author keywords

Barth syndrome; Cardiomyopathy; Fetal pathology; TAZ

Indexed keywords

CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; INFANT, NEWBORN; MALE; PEDIGREE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; TRANSCRIPTION FACTORS;

EID: 33646776774     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1438     Document Type: Article

References (6)

1. Barth PG, Schilte HR, Berden JA, et al. 1983. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62: 327-355.
2. Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. 1996. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet 12: 385-389.
3. Gonzalez IL. 2005. Earth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet 134(4): 409-414.
4. Kelley RI. at 2006. www.barthsyndrome.org.
5. Lipshultz SE, Sleeper LA, Towbin JA, et al. 2003. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 348(17): 1647-1655.
6. Mutations and variations in the TAZ/G4.5 gene at www.barth syndrome.org.