학술논문
GM3 synthase deficiency in non-Amish patients
Document Type
Article
Author
Heide, Solveig; Jacquemont, Marie-Line; Cheillan, David; Renouil, Michel; Tallot, Marilyn; Schwartz, Charles E.; Miquel, Juliette; Bintner, Marc; Rodriguez, Diana; Darcel, Françoise; Buratti, Julien; Haye, Damien; Passemard, Sandrine; Gras, Domitille; Perrin, Laurence; Capri, Yline; Gérard, Bénédicte; Piton, Amélie; Keren, Boris; Thauvin-Robinet, Christel; Duffourd, Yannis; Faivre, Laurence; Poe, Charlotte; Pervillé, Anne; Héron, Delphine; Thévenon, Julien; Arnaud, Lionel; LeGuern, Eric; La Selva, Lorita; Vetro, Annalisa; Guerrini, Renzo; Nava, Caroline; Mignot, Cyril
Source
Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p492-498, 7p
Subject
Language
ISSN
10983600; 15300366
Abstract
Biallelic loss-of-function variants in ST3GAL5cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a founder effect. To date only 10 patients from 4 non-Amish families have been reported. Thus, the phenotypical spectrum of GM3SD due to other variants and other genetic backgrounds is still poorly known.