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Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

BMC ophthalmology - 23 Jul 2022

Xing Dongjun, Yu Rongguo, Wang Linni, Hu Liying, Yang Yang, Li Chang, Li Zhiqing, Li Xiaorong

Abstract excerpt

BACKGROUND: Usher syndrome (USH) is a leading disorder of deaf-blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathognomonic symptoms. Therefore, this study aimed to reveal the genetic defects in five USH patients using clinical targeted...

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China
DNA Mutational Analysis
Extracellular Matrix Proteins
Mutation
Pedigree

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Usher Syndromes

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PMID: 35870892
DOI: 10.1186/s12886-022-02532-6
PMCID: PMC9308926

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