Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience (vol 17, e0277767, 2022)

Summary: The present study provides molecular and biochemical data of the Danish Fabry cohort and reports the experience of cascade genetic screening at the Danish National Fabry Disease Center over a period of 20 years. The study findings demonstrate the identification of pathogenic GLA variants in 96 family members through cascade genetic testing and the discovery of six previously unreported disease-causing variants in the GLA gene.