New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
ARSG
Usher syndrome
blindness
deafness
retinal degeneration
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
17
07
2020
revised:
11
11
2020
accepted:
06
12
2020
pubmed:
11
12
2020
medline:
1
4
2022
entrez:
10
12
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
ARSG protein, human
EC 3.1.6.-
Arylsulfatases
EC 3.1.6.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
261-271Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2020 Wiley Periodicals LLC.
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