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

Mutations have recently been identified in the G4.5 gene (Xq28), encoding t he tafazzin protein, in patients with Earth syndrome. We performed mutation al analysis in 5 families with suspected Earth syndrome. In 4 families a ma le child had all the cardinal features of this syndrome, and mutations of G 4.5 were found in each case. A mutation was also found in a fifth family wi th an extensive history of early infant death from heart disease. The recog nition of 5 unrelated families in 1 hospital during a 7-year. period sugges ts that this disease may be underdiagnosed.