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

BMC ophthalmology - 10 Dec 2020

Xing Dongjun, Zhou Huaiyu, Yu Rongguo, Wang Linni, Hu Liying, Li Zhiqing, Li Xiaorong

Abstract excerpt

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...

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Asian People
China
DNA Mutational Analysis
Exome
Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Usher Syndromes

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PMID: 33302902
DOI: 10.1186/s12886-020-01711-7
PMCID: PMC7727220

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