Journal article
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
DP Germain, E Brand, A Burlina, F Cecchi, SC Garman, J Kempf, DA Laney, A Linhart, L Maródi, K Nicholls, A Ortiz, F Pieruzzi, SP Shankar, S Waldek, C Wanner, A Jovanovic
Molecular Genetics and Genomic Medicine | WILEY | Published : 2018
DOI: 10.1002/mgg3.389
Abstract
Background: The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease. Methods: To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events. Results: In p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25–..
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Awarded by Sanofi Genzyme
Funding Acknowledgements
Intensificacion FIS; FEDER Funds REDINREN, Grant/Award Number: RD012/0021; Plan National Maladies Rares; Sanofi Genzyme