Ontology highlight
ABSTRACT:
SUBMITTER: Rong W
PROVIDER: S-EPMC4022727 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Rong Weining W Chen Xue X Zhao Kanxing K Liu Yani Y Liu Xiaoxing X Ha Shaoping S Liu Wenzhou W Kang Xiaoli X Sheng Xunlun X Zhao Chen C
PloS one 20140515 5
Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases. Using targeted next-generation sequencing (NGS) approach, three new alleles and one known mutation in MYO7A gene were identified in the thre ...[more]