Publications by authors named "Seth Du Preez"
Hum Genomics
December 2024
Article Synopsis
- A significant number of patients with cardiomyopathy have undetermined genetic causes, prompting researchers to analyze mtDNA variants in these cases through the 100,000 genomes project.
- The study scrutinized 1,363 genomes, identifying the pathogenic MT-TI m.4300A>G variant in four hypertrophic cardiomyopathy patients who had previously been undiagnosed, representing 0.6% of HCM cases without a known genetic cause.
- Findings suggest that MT-TI should be included in the initial genetic testing for non-syndromic hypertrophic cardiomyopathy to aid in diagnosing patients.
