Journal
OPHTHALMIC GENETICS
Volume 28, Issue 3, Pages 151-155Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810701537374
Keywords
USH1G; Usher syndrome; retinitis pigmentosa; hearing loss
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The Usher syndrome (USH) is an autosomal recessive hereditary disorder characterized by the association of sensorineural hearing loss, retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. The USH1G gene, encoding SANS, has been found to cause both Usher syndrome type I and atypical Usher syndrome. 109 Spanish unrelated patients suffering from Usher syndrome type I, type II, type III and unclassified Usher syndrome were screened for mutations in this gene, but only eight different changes without a clear pathogenic effect have been detected. Based on these results as well as previous studies in other populations where mutational analysis of this gene has been carried out, one can conclude that USH1G has a minor involvement in Usher syndrome pathogenesis.
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