JIMD Reports - Volume 11

Abstract

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Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

“…The p.N215S missense mutation has been labeled as a later-onset cardiac phenotype of Fabry disease (Eng et al, 1993(Eng et al, , 1994Germain, 2010;Germain et al, 1996;Ishii et al, 1992Ishii et al, , 2002Nakao et al, 1995;Patel et al, 2015;von Scheidt et al, 1991); however, published phenotypic data are still scarce. Three publications reported clinical findings in cohorts of patients with this mutation, but lacked detailed gender-specific clinical information (Arends et al, 2017;Havranek, Linhart, Urbanova, & Ramaswami, 2013;Patel et al, 2015). In this Fabry Registry study, we analyzed data from clinical descriptions of 59 male and 66 female p.N215S patients, making it the largest cohort reported to date.…”