He C, et al. - Researchers sought to expand the spectrum of the mutations in the major pathogenic gene for Usher syndrome type II (USH2), namely USH2A, and to further reveal the role of USH2A in USH2 via screening Chinese patients with USH2 for the USH2A gene variant. Extraction of genomic DNA was done from peripheral blood of unrelated Chinese USH2 patients and specific primers were designed for amplifying the coding region (exons 2–72) of the USH2A gene. Using Sanger sequencing, they studied alleles. The pathogenicity of the variants recognized in these patients was predicted using silico prediction tools. In Chinese patients diagnosed with Usher syndrome type 2, five heterozygous pathogenic variants in the USH2A gene were identified; of these, two were not reported. The two novel variants were c.4217C > A (p.Ser1406X) and c.11780A > G (p.Asp3927Gly)) and the three reported mutations were (c.8559-2A > G, c.8232G > C and c.11389 + 3A > T).