Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...
Diagnosis and Treatment of SLC5A6-Related Neuropathy: Insights from Genomic Sequencing Academic Background Genomics has always played an important role in the study and treatment of human diseases. The sodium-dependent multivitamin transporter (SMVT) encoded by the SLC5A6 gene is responsible for the uptake of biotin, pantothenic acid, and α-lipoic ...
New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...
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...
Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...
Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...