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Saving lives through education, advances in treatment and finding a cure for Barth syndrome

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How do you get Barth syndrome? (Inheritance)


This condition is named after Dr Peter Barth who first described it in 1983. He described a disease (X-linked genetic condition) which was inherited through the female line and could therefore affect children in different generations of a family.


The “Barth” gene (tafazzin gene) lies on structures called chromosomes. Women have two X chromosomes (XX), generally they have a back-up copy and should anything go wrong on the Barth gene on one X chromosome, they can simply use their other, healthy copy of the gene from their second X chromosome. 


Men have one X chromosome and one Y chromosome (XY) so they do not have a back-up copy if anything goes wrong on their X chromosome. Men who have an altered gene on their X chromosome thus become affected.


Having children


  • If a woman carrier has a boy, there is a 50% (1 in 2) risk that the boy will be affected.
  • If a woman carrier has a girl, there is a 50% (1 in 2) risk that the girl will be a healthy carrier, like her mother.
  • For men with Barth syndrome who have children, all of their daughters will be carriers.
  • Men do not pass on their X chromosomes to their sons. Therefore, all the sons of men with Barth syndrome are completely healthy.
  • Sometimes boys are born with X-linked conditions even though their mothers are not carriers (spontaneous mutation). When this happens, it is particularly important to get specialist advice about future pregnancies

Barth syndrome


Carrier Testing and Genetic Counselling


If you (or someone in your family like your mother, grandmother, sister, aunt etc) have a history of multiple male miscarriages or stillbirths, you should be tested to see if you’re a carrier of Barth syndrome. If you have a child who has been diagnosed with Barth syndrome, you will also be offered testing. Your blood can be analysed to see if you have the same genetic mutation as your child has – if you do, then this means you are a carrier. 


You can also discuss options regarding having your other sons and daughters tested if necessary.

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Barth Syndrome Trust graphic
Barth Syndrome Trust graphic
Barth Syndrome Trust graphic