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Article

New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.

Human mutation - 1 Mar 2021

Peter Virginie G, Quinodoz Mathieu, Sadio Silvia, Held Sebastian, Rodrigues Márcia, Soares Marta, Sousa Ana Berta, Coutinho Santos Luisa, Damme Markus, Rivolta Carlo

Abstract excerpt

In murine and canine animal models, mutations in the Arylsulfatase G gene (ARSG) cause a particular lysosomal storage disorder characterized by neurological phenotypes. Recently, two variants in the same gene were found to be associated with an atypical form of Usher syndrome in humans, leading to visual and auditory impairment without the involvement of the central nervous system. In this study, we identified...

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PMID: 33300174
DOI: 10.1002/humu.24150

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