Article
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
Genetic testing - 1 Jun 2008
Auslender Noa, Bandah Dikla, Rizel Leah, Behar Doron M, Shohat Mordechai, Banin Eyal, Allon-Shalev Stavit, Sharony Reuven, Sharon Dror, Ben-Yosef Tamar
Abstract excerpt
Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the...
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