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This study links MC1R loss-of-function variants to faster motor decline and phenoconversion in Parkinson’s disease, suggesting their value for prognosis and clinical trial design in European descent patients.
Rare deleterious variants in FBN2 gene contribute to spontaneous spinal CSF leaks, expanding our understanding of connective tissue involvement and opening paths for genetic testing and tailored therapies.
Genetic variants enriched in individuals of African ancestry confer increased risk of cardiomyopathy and arrhythmias, with cardiovascular risk factors amplifying this risk. Large biobank studies enable reclassification of key variants and h
A genome-first study found similar rates of pathogenic FH variants in African and European ancestry groups, but uncertain variants were more common and potentially more harmful in African ancestry individuals, highlighting the need for more
This study highlights the role of RBM20 truncating variants in arrhythmogenic dilated cardiomyopathy, showing reduced penetrance and milder disease severity compared to pathogenic missense variants and titin truncating variants.
This study identifies CDKL1 gene variants impairing ciliary function as novel genetic contributors to thoracic aortic aneurysm and dissection, highlighting an emerging pathogenic link between cilia biology and vascular disease.
Monoallelic NOTCH3 loss-of-function variants cause a subclinical small vessel disease distinct from CADASIL, with white matter changes but lower stroke risk; cardiovascular risk factors and aging exacerbate the phenotype.