Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

doi:10.1111/cge.14614

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Article

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Clinical genetics - 1 Jan 2025

Bauwens Miriam, De Man Vincent, Audo Isabelle, Balikova Irina, Zein Wadih M, Smirnov Vasily, Held Sebastian, Vermeer Sascha, Loos Elke, Jacob Julie, Casteels Ingele, Désir Julie, Depasse Fanny, Van de Sompele Stijn, Van Heetvelde Mattias, De Bruyne Marieke, Andrieu Camille, Condroyer Christel, Antonio Aline, Hufnagel Robert, Carvalho Ana Luísa, Marques João Pedro, Zeitz Christina, De Baere Elfride, Damme Markus

Abstract excerpt

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra-rare and recently discovered genes is ARSG, coding for the lysosomal...

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PMID: 39199020
DOI: 10.1111/cge.14614
PMCID: PMC11608847

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ARSG

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