Article
A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility.
Genes - 16 Dec 2022
Esposito Federica, Osiceanu Ana Maria, Sorosina Melissa, Ottoboni Linda, Bollman Bryan, Santoro Silvia, Bettegazzi Barbara, Zauli Andrea, Clarelli Ferdinando, Mascia Elisabetta, Calabria Andrea, Zacchetti Daniele, Capra Ruggero, Ferrari Maurizio, Provero Paolo, Lazarevic Dejan, Cittaro Davide, Carrera Paola, Patsopoulos Nikolaos, Toniolo Daniela, Sadovnick A Dessa, Martino Gianvito, De Jager Philip L, Comi Giancarlo, Stupka Elia, Vilariño-Güell Carles, Piccio Laura, Martinelli Boneschi Filippo
Abstract excerpt
While the role of common genetic variants in multiple sclerosis (MS) has been elucidated in large genome-wide association studies, the contribution of rare variants to the disease remains unclear. Herein, a whole-genome sequencing study in four affected and four healthy relatives of a consanguineous Italian family identified a novel missense c.1801T > C (p.S601P) variant in the GRAMD1B gene that is shared within...
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