Abstract
Barth syndrome is an X-linked recessive cardioskeletal myopathy associated with neutropenia, growth retardation, abnormal mitochondria (abnormal cristae), and elevated levels of urinary 3-methylglutaconic acid and 2-ethylhydracrylic acid. Lipid myopathy, decreased plasma free carnitine, lowered cytochrome concentrations, and granulocytopenia are also characteristic of this disease. The gene for Barth syndrome, which was previously mapped to Xq28, was recently identified as G4.5. This 6,234 bp gene consists of 11 exons, three of which (exons 5, 6, and 7), are differentially spliced resulting in five protein products. These proteins, classified as tafazzins, show no homolgy to any previously identified proteins, and thus, are unique. Four mutations in G4.5 have previously been described in patients with Barth syndrome. We report a new mutation in G4.5 in one family having three males affected with Barth syndrome.
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