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Barth syndrome is a rare X-linked recessive genetic disorder that appears in childhood, with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other medical signs. TAFAZZIN is the pathogenic gene of BTHS, which encodes the tafazzin protein of the mitochondrial's inner membrane, a phosphatidyltransferase involved in cardiolipin remodeling and functional maturation. TAFAZZIN had the mutation c. 311A > C/p. His104Pro, which was the carrier, according to the carrier's mother, who was the carrier, and after induce labor, whole exome sequencing of fetal skin tissue revealed that TAFAZZIN had the mutation c. 311A > C/p. His104Pro. The stability of the local protein structure and protein expression of the He104Pro mutation was decreased by cellular dynamics and protein expression experiments. In conclusion, the study showed that the TAFAZZIN mutation spectrum can be enriching our understanding of the early embryo, and that His104Pro may lead to cardiac abnormalities in the early embryo.
Source link: https://doi.org/10.3389/fped.2022.1004485
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