Article
Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2025
Ariza María José, Coca-Prieto Inmaculada, Rioja José, Muñiz-Grijalvo Ovidio, Zambón-Rados Daniel, Blanco-Echevarría Agustín, Arrobas-Velilla Teresa, Delgado-Lista Javier, León-Jiménez David, Casañas-Martínez Marta, Álvarez-Sala Luis Antonio, Gutiérrez-Carrasquilla Liliana, Sánchez-Gil Justo, Domènech Mónica, González-Jiménez Andrés, Benítez-Toledo María José, Espíldora-Hernández Javier, Ortega-Martínez de Victoria Emilio, Sánchez-Chaparro Miguel Ángel, Valdivielso Pedro
Abstract excerpt
PURPOSE: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases. METHODS: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing. Preliminary variant pathogenicity criteria and classification, based on the American College of Medical Genetics and...
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