How is Barth syndrome inherited?
Barth syndrome is inherited in an X-linked recessive manner. This means the gene associated with it, called tafazzin (TAZ), is on the X-chromosome. Females usually have two X-chromosomes and males have one. People with Barth syndrome have a change, or mutation, in the tafazzin gene on one of their X-chromosomes. Since males only have one X-chromosome to begin with, they are more likely to have symptoms of Barth syndrome if they have a tafazzin gene mutation -- they have no "back-up" gene on a second X-chromosome. Females have that "back-up" second X-chromosome and are often protected from symptoms of Barth syndrome for this reason. Females who have a tafazzin gene mutation on one of their X-chromosomes are known as Barth syndrome "carriers" and can have sons with Barth syndrome and daughters that are Barth syndrome carriers in the future.
- Genetics Home Reference. Barth syndrome. Retrieved September 25, 2017 from https://ghr.nlm.nih.gov/condition/barth-syndrome.
- Ferreira, C., Thompson, R., & Vernon, H. (2014, October 9). Barth syndrome. (R. Pagon, M. Adam, HH Ardinger, et al., Eds.) GeneReviews. Retrieved July 4, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK247162/.