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Barth Syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Barth syndrome is inherited as an X-linked recessive trait. Because males only have one X chromosome, they only have one copy of the G4.5 gene and they run into problems if this is faulty. In contrast, females have two X chromosomes: if they have a faulty copy of G4.5, they are asymptomatic because they still have one normal copy. A carrier female can, however, pass the faulty gene on to her children: her sons have a fifty per cent chance of being affected and her daughters have a fifty per cent chance of being carriers. Detailed genetic counselling is advisable when Barth syndrome is identified in a family.
Prenatal diagnosis
Prenatal diagnosis is possible at an early stage in pregnancy in families where the mutation is known. Suitable specimens can be obtained by amniocentesis or chorionic villus sampling.
How is it treated?
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