Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...

Effectiveness of European-derived Cardiometabolic Polygenic Scores in Multi-ancestral Populations In recent years, Polygenic Scores (PGS) have received widespread attention as a tool for assessing individual genetic risk. However, most existing PGS are based on Genome-Wide Association Studies (GWAS) data from white European populations. This has le...

Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...

Clinical Impact of Pharmacogenomic Testing on Antiplatelet Therapy Background Pharmacogenomics (PGx) is changing the use of P2Y12 inhibitors (antiplatelet drugs), which are widely used in the treatment of acute coronary syndrome (ACS), neurovascular problems, and vascular diseases. Among them, clopidogrel is a commonly used P2Y12 inhibitor. This pr...