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Article

Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.

EBioMedicine - 1 Jun 2026

Geng Jia, Zhao Yixin, Huang Yu, Xiong Wenyu, Zhong Mingjun, Wang Chao, Wang Xiaolu, Zhang Qian, Tang Ting, Chen Meilin, Fang Liyuan, Yang Ye, Bu Fengxiao, Cheng Jing, Lu Yu, Yuan Huijun

Abstract excerpt

BACKGROUND: Standardised variant interpretation frameworks inadequately accommodate the distinct mutational and phenotypic architectures inherent to specific genes or diseases. POU3F4 exemplifies this limitation in X-linked hearing loss, where stringent genotype-phenotype correlations and localised mutational hotspots dominate the pathogenic landscape. We sought to establish a calibrated, gene-specific...

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Identifiers

PMID: 42214845
DOI: 10.1016/j.ebiom.2026.106318
PMCID: PMC13242011

Genes

POU3F4

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