PortalPublikationenUsher syndrome type IV: clinically and molecularly confirmed...

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Standard

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. / Velde, Hedwig M; Reurink, Janine; Held, Sebastian; Li, Catherina H Z; Yzer, Suzanne; Oostrik, Jaap; Weeda, Jack; Haer-Wigman, Lonneke; Yntema, Helger G; Roosing, Susanne; Pauleikhoff, Laurenz; Lange, Clemens; Whelan, Laura; Dockery, Adrian; Zhu, Julia; Keegan, David J; Farrar, G Jane; Kremer, Hannie; Lanting, Cornelis P; Damme, Markus; Pennings, Ronald J E.

in: HUM GENET, Jahrgang 141, Nr. 11, 11.2022, S. 1723-1738.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Velde, HM, Reurink, J, Held, S, Li, CHZ, Yzer, S, Oostrik, J, Weeda, J, Haer-Wigman, L, Yntema, HG, Roosing, S, Pauleikhoff, L, Lange, C, Whelan, L, Dockery, A, Zhu, J, Keegan, DJ, Farrar, GJ, Kremer, H, Lanting, CP, Damme, M & Pennings, RJE 2022, 'Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants', HUM GENET, Jg. 141, Nr. 11, S. 1723-1738. https://doi.org/10.1007/s00439-022-02441-0

APA

Velde, H. M., Reurink, J., Held, S., Li, C. H. Z., Yzer, S., Oostrik, J., Weeda, J., Haer-Wigman, L., Yntema, H. G., Roosing, S., Pauleikhoff, L., Lange, C., Whelan, L., Dockery, A., Zhu, J., Keegan, D. J., Farrar, G. J., Kremer, H., Lanting, C. P., ... Pennings, R. J. E. (2022). Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. HUM GENET, 141(11), 1723-1738. https://doi.org/10.1007/s00439-022-02441-0

Vancouver

Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J et al. Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. HUM GENET. 2022 Nov;141(11):1723-1738. https://doi.org/10.1007/s00439-022-02441-0

Bibtex

@article{ef3d57646d0b47ff9a14c6f09689ba9a,
title = "Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants",
abstract = "Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV. This distinct type of USH is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. In this study, we describe the USH type IV phenotype in three unrelated subjects. We identified three novel pathogenic variants, two novel likely pathogenic variants, and one previously described pathogenic variant in ARSG. Functional experiments indicated a loss of sulfatase activity of the mutant proteins. Our findings confirm that ARSG variants cause the newly defined USH type IV and support the proposed extension of the phenotypic USH classification.",
keywords = "Arylsulfatases, Humans, Mutant Proteins, Retinitis Pigmentosa/genetics, Sulfatases, Usher Syndromes/genetics",
author = "Velde, {Hedwig M} and Janine Reurink and Sebastian Held and Li, {Catherina H Z} and Suzanne Yzer and Jaap Oostrik and Jack Weeda and Lonneke Haer-Wigman and Yntema, {Helger G} and Susanne Roosing and Laurenz Pauleikhoff and Clemens Lange and Laura Whelan and Adrian Dockery and Julia Zhu and Keegan, {David J} and Farrar, {G Jane} and Hannie Kremer and Lanting, {Cornelis P} and Markus Damme and Pennings, {Ronald J E}",
note = "{\textcopyright} 2022. The Author(s).",
year = "2022",
month = nov,
doi = "10.1007/s00439-022-02441-0",
language = "English",
volume = "141",
pages = "1723--1738",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "11",

}

RIS

TY - JOUR

T1 - Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

AU - Velde, Hedwig M

AU - Reurink, Janine

AU - Held, Sebastian

AU - Li, Catherina H Z

AU - Yzer, Suzanne

AU - Oostrik, Jaap

AU - Weeda, Jack

AU - Haer-Wigman, Lonneke

AU - Yntema, Helger G

AU - Roosing, Susanne

AU - Pauleikhoff, Laurenz

AU - Lange, Clemens

AU - Whelan, Laura

AU - Dockery, Adrian

AU - Zhu, Julia

AU - Keegan, David J

AU - Farrar, G Jane

AU - Kremer, Hannie

AU - Lanting, Cornelis P

AU - Damme, Markus

AU - Pennings, Ronald J E

N1 - © 2022. The Author(s).

PY - 2022/11

Y1 - 2022/11

N2 - Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV. This distinct type of USH is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. In this study, we describe the USH type IV phenotype in three unrelated subjects. We identified three novel pathogenic variants, two novel likely pathogenic variants, and one previously described pathogenic variant in ARSG. Functional experiments indicated a loss of sulfatase activity of the mutant proteins. Our findings confirm that ARSG variants cause the newly defined USH type IV and support the proposed extension of the phenotypic USH classification.

AB - Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Recently, variants in the arylsulfatase G (ARSG) gene have been reported to underlie USH type IV. This distinct type of USH is characterized by late-onset RP with predominantly pericentral and macular changes, and late onset SNHL without vestibular dysfunction. In this study, we describe the USH type IV phenotype in three unrelated subjects. We identified three novel pathogenic variants, two novel likely pathogenic variants, and one previously described pathogenic variant in ARSG. Functional experiments indicated a loss of sulfatase activity of the mutant proteins. Our findings confirm that ARSG variants cause the newly defined USH type IV and support the proposed extension of the phenotypic USH classification.

KW - Arylsulfatases

KW - Humans

KW - Mutant Proteins

KW - Retinitis Pigmentosa/genetics

KW - Sulfatases

KW - Usher Syndromes/genetics

U2 - 10.1007/s00439-022-02441-0

DO - 10.1007/s00439-022-02441-0

M3 - SCORING: Journal article

C2 - 35226187

VL - 141

SP - 1723

EP - 1738

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 11

ER -