Although BTHS patients exhibit mutations along the entire TAZ gene [6,16], of the current 57 BTHS mutations listed within the TAZ acyltransferase domain [https://www.barthsyndrome.org, accessed 4 March 2024], only 38 are predicted to be pathogenic, 13 are variants of uncertain significance, and 6 are benign. This evidence concerns the gene TAFAZZIN and Barth syndrome.