USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.

The British Journal of Ophthalmology
Tian ZhuRuifang Sui

Abstract

To reveal the Usher syndrome type IIA (USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation. Targeted exome capture plus next-generation sequencing confirmed that 284 patients from 260 unrelated Chinese families carried USH2A disease-associated variants. Both personal medical history and family histories were reviewed. Ocular examinations were performed and audiograms were recorded if hearing loss was suspected. The genotype-phenotype correlation was evaluated by statistical analyses. A total of 230 variants in the USH2A gene were identified, of which 90 (39.13%) were novel. The most common variants in the RP and USH2 probands were p.Cys934Trp and p.Tyr2854_2894del, respectively, and 26.42% and 63.64% of the alleles in the RP and USH2 groups were truncating, respectively. Patients harbouring biallelic truncating variants had a younger age at the initial clinical visit and symptom onset than patients with missense variants; furthermore, the patients with USH2 had a younger age at the initial clinical visit and nyctalopia onset compared with the patients with RP (p<0.001). For the patients w...Continue Reading

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