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Article

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2018

Khateb Samer, Kowalewski Björn, Bedoni Nicola, Damme Markus, Pollack Netta, Saada Ann, Obolensky Alexey, Ben-Yosef Tamar, Gross Menachem, Dierks Thomas, Banin Eyal, Rivolta Carlo, Sharon Dror

Abstract excerpt

PURPOSE: We aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome. METHODS: Whole-exome and genome sequencing were performed in five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and sensorineural hearing loss. Functional analysis of the wild-type and mutant proteins was performed in...

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PMID: 29300381
DOI: 10.1038/gim.2017.227

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ARSG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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