Key result
A proband with Barth syndrome and left ventricular non-compaction possessed novel mutations in TAZ and LDB3 genes, exhibiting significantly lower myocardial expression of both genes compared to controls.
Population
A family including a 12-year-old proband with left ventricular non-compaction, dilated cardiomyopathy…
Comparison
Genetic sequencing and expression studies of TAZ… vs Healthy controls (blood and myocardial samples)
Design
Case_report
Follow-up
12 years (for the proband)
Authors
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Suggests LDB3 variants in familial LVNC; leaves open causality and clinical utility pending validation.
Case Report
Compound mutations in TAZ and LDB3 genes may contribute to the phenotype of Barth syndrome, with expression data suggesting tafazzins are essential during fetal and early post-natal life.
Marziliano et al. (2007) conducted a case report in Barth syndrome and left ventricular non-compaction. TAZ and LDB3 gene mutations vs. Age-matched controls was evaluated on TAZ and LDB3 gene expression. A proband with Barth syndrome and left ventricular non-compaction possessed novel mutations in TAZ and LDB3 genes, exhibiting significantly lower myocardial expression of both genes compared to controls.
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