Novel variants associated with hearing loss in a Chinese family variants in Chinese hearing loss.

INTRODUCTION

Hearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The gene encodes the protein tyrosine phosphatase receptor Q, which plays an important role in maintaining the structure and function of the stereocilia of hair cells. Variants in the gene have been implicated in hereditary sensorineural hearing loss.

METHODS AND RESULTS

Utilizing next-generation sequencing technology, we identified novel compound heterozygous variants (c.977G>A:p.W326X and c.6742C>T:p.Q2248X) in the gene within a Chinese national lineage, marking the first association of these variants with hereditary sensorineural hearing loss.

DISCUSSION

Our findings further emphasize the critical role of in auditory function and contribute to a more comprehensive understanding of -associated hearing loss mechanisms, aiding in clinical management and genetic counseling.