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

Tytuł:: New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Autorzy:: Peter VG; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Institute of Experimental Pathology, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Sadio S; Department of Ophthalmology, Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal.
Held S; Department of Biochemistry, University of Kiel, Kiel, Germany.
Rodrigues M; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
Soares M; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.
Sousa AB; Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML), Lisbon, Portugal.; Department of Basic Immunology, Medical Faculty, University of Lisbon, Lisbon, Portugal.
Coutinho Santos L; Department of Ophthalmology, Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal.
Damme M; Department of Biochemistry, University of Kiel, Kiel, Germany.
Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Źródło:: Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 261-271. Date of Electronic Publication: 2020 Dec 25.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: New York : Wiley-Liss, c1992-
MeSH Terms:: Arylsulfatases*/genetics
Arylsulfatases*/metabolism
Retinitis Pigmentosa*/genetics
Usher Syndromes*/genetics
Usher Syndromes*/metabolism
Humans ; Mutation ; Pedigree ; Phenotype ; Portugal
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Contributed Indexing:: Keywords: ARSG; Usher syndrome; blindness; deafness; retinal degeneration
Substance Nomenclature:: EC 3.1.6.- (ARSG protein, human)
EC 3.1.6.1 (Arylsulfatases)
Entry Date(s):: Date Created: 20201210 Date Completed: 20220331 Latest Revision: 20221101
Update Code:: 20240104
DOI:: 10.1002/humu.24150
PMID:: 33300174
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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 three novel pathogenic variants in ARSG, which segregated recessively with the disease in two families from Portugal. The probands were affected with retinitis pigmentosa and sensorineural hearing loss, generally with an onset of symptoms in their fourth decade of life. Functional experiments showed that these pathogenic variants abolish the sulfatase activity of the Arylsulfatase G enzyme and impede the appropriate lysosomal localization of the protein product, which appears to be retained in the endoplasmic reticulum. Our data enable to definitely confirm that different biallelic variants in ARSG cause a specific deaf-blindness syndrome, by abolishing the activity of the enzyme it encodes.
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Erratum in: Hum Mutat. 2022 Dec;43(12):2326-2327. (PMID: 36317447)

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