Abstract | PURPOSE: We aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome. METHODS: RESULTS: CONCLUSION: Homozygosity for ARSG-p.D45Y in humans leads to protein dysfunction, causing an atypical combination of late-onset Usher syndrome. Although there is no evidence for generalized clinical manifestations of lysosomal storage diseases in this set of patients, we cannot rule out the possibility that mild and late-onset symptoms may appear.
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Authors | Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Damme, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben-Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 20
Issue 9
Pg. 1004-1012
(09 2018)
ISSN: 1530-0366 [Electronic] United States |
PMID | 29300381
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- ARSG protein, human
- Arylsulfatases
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Topics |
- Adult
- Arylsulfatases
(genetics, metabolism)
- Base Sequence
- DNA Mutational Analysis
- Female
- Founder Effect
- Homozygote
- Humans
- Male
- Mutation
- Mutation, Missense
- Pedigree
- Retina
(metabolism)
- Retinal Degeneration
(enzymology, genetics)
- Retinitis Pigmentosa
(enzymology, genetics)
- Usher Syndromes
(genetics)
- Exome Sequencing
- Whole Genome Sequencing
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