![]() USH has a worldwide prevalence of 1/16,000 to 1/50,000. USHER SYNDROME (USH), the most common cause of combined sensorineural deafness and blindness, is a recessively inherited disorder, characterized by the combination of sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP), with or without vestibular impairment. Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations. We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. The aim of the current work was to investigate the genetic basis for USH2 among Jews of various origins. Many of these mutations are rare private mutations segregating in single families. To date, over 70 pathogenic mutations of USH2A have been reported in individuals of various ethnicities. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. ![]() From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. 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. ![]()
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