AUTHOR=Hou Yuan , Shi Yuanzhen , Liu Longyan , Duan Shihong 

TITLE=Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss

JOURNAL=Frontiers in Genetics

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2024.1399760

DOI=10.3389/fgene.2024.1399760

ISSN=1664-8021

ABSTRACT=<sec><title>Introduction</title><p>Hearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The <italic>PTPRQ</italic> 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 <italic>PTPRQ</italic> gene have been implicated in hereditary sensorineural hearing loss.</p></sec><sec><title>Methods and Results</title><p>Utilizing next-generation sequencing technology, we identified novel compound heterozygous variants (c.977G&gt;A:p.W326X and c.6742C&gt;T:p.Q2248X) in the <italic>PTPRQ</italic> gene within a Chinese national lineage, marking the first association of these variants with hereditary sensorineural hearing loss.</p></sec><sec><title>Discussion</title><p>Our findings further emphasize the critical role of <italic>PTPRQ</italic> in auditory function and contribute to a more comprehensive understanding of <italic>PTPRQ</italic>-associated hearing loss mechanisms, aiding in clinical management and genetic counseling.</p></sec>