Hou Yuan, Shi Yuanzhen, Liu Longyan, Duan Shihong
Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, Lanzhou, China.
Front Genet. 2024 Aug 14;15:1399760. doi: 10.3389/fgene.2024.1399760. eCollection 2024.
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.
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.
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.
听力损失是最常见的先天性感觉障碍之一。超过50%的先天性听力损失病例归因于遗传因素。该基因编码蛋白酪氨酸磷酸酶受体Q，其在维持毛细胞静纤毛的结构和功能中起重要作用。该基因的变异与遗传性感觉神经性听力损失有关。
利用下一代测序技术，我们在中国一个家系中鉴定出该基因中的新型复合杂合变异（c.977G>A:p.W326X和c.6742C>T:p.Q2248X），这是这些变异首次与遗传性感觉神经性听力损失相关联。
我们的发现进一步强调了该基因在听觉功能中的关键作用，并有助于更全面地理解与该基因相关的听力损失机制，为临床管理和遗传咨询提供帮助。
