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

• Published in: Clinical genetics Vol. 107; no. 1; pp. 44 - 55
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.01.2025
• Subjects: Adult; Aged; ARSG; Arylsulfatase; Arylsulfatases - genetics; canine variant p.(Arg99His); Dystrophy; Ectopic expression; Enzymatic activity; Female; Genetic Predisposition to Disease; Hearing loss; Humans; lysosomal sulfatase; Male; Middle Aged; Mutation; Neuronal ceroid lipofuscinosis; Original; Pedigree; Phenotype; Phenotypes; Retinitis pigmentosa; retinitis pigmentosa (RP); Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology; rod‐cone dystrophy (RCD); sensorineural hearing loss (SNHL); Usher syndrome (USH); Usher Syndromes - genetics; Usher's syndrome; Vestibular system; lysosomal sulfatase; rod‐cone dystrophy (RCD); retinitis pigmentosa (RP); sensorineural hearing loss (SNHL); canine variant p.(Arg99His); Usher syndrome (USH); ARSG

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...