Open AccessDilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C
Author(s) -
Sinda ZarroukMahjoub,
Josef Finsterer,
Sounira Mehri,
Fatma Ourda,
Saïda Ben Arab,
R. Boussada
Publication year - 2021
Publication title -
journal of medical cases
Language(s) - English
Resource type - Journals
eISSN - 1923-4163
pISSN - 1923-4155
DOI - 10.14740/jmc3787
Subject(s) - missense mutation , mitochondrial dna , genetics , gene , medicine , cytochrome b , mutation , dilated cardiomyopathy , cardiomyopathy , microbiology and biotechnology , biology , heart failure
Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB , resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM.