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

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.
(2025) CLINICAL GENETICS. 107(1). p.44-55
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Abstract
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 sulfatase Arylsulfatase G. This subtype was assigned as "USH IV" with a late onset of RP and usually late-onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG-USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work-up of apparent isolated inherited retinal diseases.
Keywords
ARSG, canine variant p.(Arg99His), lysosomal sulfatase, retinitis pigmentosa (RP), rod-cone dystrophy (RCD), sensorineural hearing loss (SNHL), Usher syndrome (USH), RETINITIS-PIGMENTOSA, MUCOPOLYSACCHARIDOSIS, DEFICIENT, DISEASE, IDENTIFICATION, CLN3

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MLA
Bauwens, Miriam, et al. “Expanding the Genetic Landscape of Usher Syndrome Type IV Caused by Pathogenic ARSG Variants.” CLINICAL GENETICS, vol. 107, no. 1, 2025, pp. 44–55, doi:10.1111/cge.14614.
APA
Bauwens, M., De Man, V., Audo, I., Balikova, I., Zein, W. M., Smirnov, V., … Damme, M. (2025). Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. CLINICAL GENETICS, 107(1), 44–55. https://doi.org/10.1111/cge.14614
Chicago author-date
Bauwens, Miriam, Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, et al. 2025. “Expanding the Genetic Landscape of Usher Syndrome Type IV Caused by Pathogenic ARSG Variants.” CLINICAL GENETICS 107 (1): 44–55. https://doi.org/10.1111/cge.14614.
Chicago author-date (all authors)
Bauwens, Miriam, Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, Ingele Casteels, Julie Désir, Fanny Depasse, Stijn Van de Sompele, Mattias Van Heetvelde, Marieke De Bruyne, Camille Andrieu, Christel Condroyer, Aline Antonio, Robert B. Hufnagel, Ana Luísa Carvalho, João Pedro Marques, Christina Zeitz, Elfride De Baere, and Markus Damme. 2025. “Expanding the Genetic Landscape of Usher Syndrome Type IV Caused by Pathogenic ARSG Variants.” CLINICAL GENETICS 107 (1): 44–55. doi:10.1111/cge.14614.
Vancouver
1.
Bauwens M, De Man V, Audo I, Balikova I, Zein WM, Smirnov V, et al. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants. CLINICAL GENETICS. 2025;107(1):44–55.
IEEE
[1]
M. Bauwens et al., “Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants,” CLINICAL GENETICS, vol. 107, no. 1, pp. 44–55, 2025.
@article{01JJRPSVM63JP0Q7P5TXAVCZG9,
  abstract     = {{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 sulfatase Arylsulfatase G. This subtype was assigned as "USH IV" with a late onset of RP and usually late-onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG-USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work-up of apparent isolated inherited retinal diseases.}},
  author       = {{Bauwens, Miriam and De Man, Vincent and Audo, Isabelle and Balikova, Irina and Zein, Wadih M. and Smirnov, Vasily and Held, Sebastian and Vermeer, Sascha and Loos, Elke and Jacob, Julie and Casteels, Ingele and Désir, Julie and Depasse, Fanny and Van de Sompele, Stijn and Van Heetvelde, Mattias and De Bruyne, Marieke and Andrieu, Camille and Condroyer, Christel and Antonio, Aline and Hufnagel, Robert B. and Carvalho, Ana Luísa and Marques, João Pedro and Zeitz, Christina and De Baere, Elfride and Damme, Markus}},
  issn         = {{0009-9163}},
  journal      = {{CLINICAL GENETICS}},
  keywords     = {{ARSG,canine variant p.(Arg99His),lysosomal sulfatase,retinitis pigmentosa (RP),rod-cone dystrophy (RCD),sensorineural hearing loss (SNHL),Usher syndrome (USH),RETINITIS-PIGMENTOSA,MUCOPOLYSACCHARIDOSIS,DEFICIENT,DISEASE,IDENTIFICATION,CLN3}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{44--55}},
  title        = {{Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants}},
  url          = {{http://doi.org/10.1111/cge.14614}},
  volume       = {{107}},
  year         = {{2025}},
}
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