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J Pediatr. 1999 Sep;135(3):311-5.

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

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Department of Pathology and Microbiology, Bristol University, Southmead Hospital, Bristol, UK.

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  • J Pediatr 2000 Jun;136(1):136.


Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the cardinal features of this syndrome, and mutations of G4.5 were found in each case. A mutation was also found in a fifth family with an extensive history of early infant death from heart disease. The recognition of 5 unrelated families in 1 hospital during a 7-year period suggests that this disease may be underdiagnosed.

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