Barth Syndrome
Description
Barth syndrome is a rare, X-linked genetic disorder primarily affecting males. It‘s characterized by a variety of symptoms, including heart problems, muscle weakness, and a specific type of neutropenia (low neutrophil count). This blog provides comprehensive information about Barth syndrome, including its signs, causes, diagnosis, management, and strategies for families to thrive.
Genes Involved
Barth syndrome is caused by mutations in the TAZ gene. This gene provides instructions for making a protein called tafazzin. Tafazzin is essential for the production of cardiolipin, a specialized type of fat found in the mitochondria (the energy-producing parts of cells). Mutations in TAZ disrupt the production of cardiolipin, leading to the problems associated with Barth syndrome.
Recognizing the Signs and Symptoms
The signs and symptoms of Barth syndrome can vary widely from person to person. Some common symptoms include:
- Cardiomyopathy: Enlarged heart, weakened heart muscle, and heart rhythm problems
- Muscle weakness: Difficulty with movement and exercise
- Neutropenia: Low levels of neutrophils, a type of white blood cell important for fighting infections
- Growth delays: Slow growth rate, particularly in height
- Other possible symptoms: Delayed development, learning difficulties, liver problems, and kidney problems
Causes
Barth syndrome is caused by mutations in the TAZ gene. These mutations are inherited in an X-linked recessive pattern. This means that the gene responsible for the disorder is located on the X chromosome, and females typically carry one copy of the mutated gene without experiencing symptoms. However, males inherit only one X chromosome, and if they inherit the mutated gene, they will develop the disorder.
Inheritance/recurrence risk
Barth syndrome is inherited in an X-linked recessive pattern. This means that:
- Females: Typically carry one copy of the mutated gene without experiencing symptoms. They are called carriers.
- Males: Inherit only one X chromosome. If they inherit the mutated gene, they will develop the disorder.
Recurrence risk: If a couple has a child with Barth syndrome, the risk of having another child with the disorder depends on the mother‘s carrier status.
- If the mother is a carrier: There is a 50% chance that each future son will inherit the mutated gene and have Barth syndrome.
- If the mother is not a carrier: The chance of having another child with Barth syndrome is very low.
