A member asked:

What type of mutation causes barth syndrome?

A doctor has provided 1 answer
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources.

Answered 12/5/2014

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