Heterozygous <i>TBX2</i> frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.

ABSTRACT:

Background

A substantial fraction of hereditary hearing loss (HL) remains unexplained by known HL genes. Tbx2 is a developmental transcription factor critical for inner ear hair cell differentiation in mice, while its pathogenic role in genetic HL in humans has yet to be documented. Here, we identified heterozygous TBX2 frameshift variants that cause human HL, establishing a previously unrecognised genetic link.

Methods

Linkage analysis combined with whole-genome sequencing (WGS) was applied to identify the causative gene in two unrelated Chinese families with autosomal dominant progressive sensorineural HL (SNHL) accompanied by incomplete penetrance nystagmus. Functional evaluation of TBX2 variants was performed through protein expression, localisation and tra

SUBMITTER: Hua W 

PROVIDER: S-EPMC12772546 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature