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Article

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.

BMC medical genomics - 10 Aug 2021

Zhou Cong, Xiao Yuanyuan, Xie Hanbing, Liu Shanling, Wang Jing

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prenatal diagnosis of the patient's mother. CASE PRESENTATION: Genomic DNA obtained from a five-year-old girl with hearing loss...

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Identifiers

PMID: 34376197
DOI: 10.1186/s12920-021-01052-4
PMCID: PMC8353764

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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