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Article

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.

The Journal of pathology - 1 Jun 2026

Shi Tao, Huang Yu, Su Xiaohuan, Yu Lisheng, Zhao Yixin, Cheng Jing

Abstract excerpt

MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non-syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain significance (VUS). We investigated the clinical impact of MYO7A...

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Topics

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Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 41852313
DOI: 10.1002/path.70048
PMCID: PMC13140121

Genes

MYO7A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.PMID 41852313Read ↗

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