Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

ABSTRACT:

Background

Usher syndrome is a disease with a heterogeneous phenotype and genotype. Our purpose was to identify the gene mutation in a Chinese family with Usher syndrome type 2 and describe the clinical features.

Case presentation

A 23-year-old man complained of a 10-year duration of nyctalopia and a 3-year decline in visual acuity of both eyes accompanied by congenital dysaudia. To clarify the diagnosis, the clinical symptoms were observed and analysed in combination with comprehensive ophthalmologic examinations as well as genetic analysis (targeted exome sequencing, TES). A typical clinical presentation of Usher syndrome of the fundus was found, including a waxy yellow-like disc, bone-spicule formations and retinal vessel stenosis. Optical coherence tomography (OCT) and o

SUBMITTER: Xing D 

PROVIDER: S-EPMC7727220 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature