Key result
Sequencing of the TAZ gene in a family with Barth syndrome identified a novel deleterious mutation in exon 5 (c.520T>G, pW174G) responsible for the phenotype.
Population
A family with X-linked dilated cardiomyopathy Barth syndrome, including a proband who died at 8 months of…
Design
Case_report
Follow-up
1 year (for the subsequent pregnancy child)
Authors
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Novel TAZ mutation expands Barth syndrome variant spectrum; leaves open pathogenicity and diagnostic utility pending validation.
Case Report
The identification of a novel TAZ gene mutation (c.520T>G) expands the genetic spectrum of Barth syndrome and demonstrates the utility of genetic testing for prenatal diagnosis in affected families.
Borkar et al. (2015) conducted a case report in X-Linked Dilated Cardiomyopathy Barth Syndrome. TAZ gene mutation (c.520T>G) was evaluated on Identification of genetic cause of BTHS. Sequencing of the TAZ gene in a family with Barth syndrome identified a novel deleterious mutation in exon 5 (c.520T>G, pW174G) responsible for the phenotype.
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