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Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.

Molecular medicine reports - 1 Oct 2020

Fu Jiewen, Cheng Jingliang, Zhou Qi, Khan Md Asaduzzaman, Duan Chengxia, Peng Jiangzhou, Lv Hongbin, Fu Junjiang

Abstract excerpt

Usher syndrome refers to a group of genetically and clinically heterogeneous autosomal recessive diseases with retinitis pigmentosa (RP) and hearing deficiencies. The association between Usher syndrome‑causative genes and resultant Usher syndrome phenotypes in patients are highly variable. In the present study, a Chinese family with Usher syndrome was recruited, and targeted next‑generation sequencing, Sanger...

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Identifiers

PMID: 32945453
DOI: 10.3892/mmr.2020.11400
PMCID: PMC7453661

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