Jin Yuan, Liu Xiao-Zhou, Xie Le, Xie Wen, Chen Sen, Sun Yu
Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Tongji Medical College, Institute of Otorhinolaryngology, Huazhong University of Science and Technology, Wuhan, China.
Front Genet. 2022 Jul 8;13:884522. doi: 10.3389/fgene.2022.884522. eCollection 2022.
Hearing loss is among the most common congenital sensory impairments. Genetic causes account for more than 50% of the cases of congenital hearing loss. The gene, encoding protein tyrosine phosphatase receptor Q, plays an important role in maintaining the stereocilia structure and function of hair cells. Mutations in the gene have been reported to cause hereditary sensorineural hearing loss. By using next-generation sequencing and Sanger sequencing, we identified a novel compound heterozygous mutation (c.997 G > A and c.6603-3 T > G) of the gene in a Chinese consanguineous family. This is the first report linking these two mutations to recessive hereditary sensorineural hearing loss. These findings contribute to the understanding of the relationship between genotype and hearing phenotype of -related hearing loss, which may be helpful to clinical management and genetic counseling.
听力损失是最常见的先天性感觉障碍之一。遗传因素导致的先天性听力损失病例占比超过50%。编码蛋白酪氨酸磷酸酶受体Q的基因在维持毛细胞静纤毛结构和功能方面发挥着重要作用。据报道，该基因的突变会导致遗传性感觉神经性听力损失。通过使用二代测序和桑格测序，我们在中国一个近亲家庭中鉴定出该基因的一种新型复合杂合突变（c.997 G > A和c.6603-3 T > G）。这是首次将这两种突变与隐性遗传性感觉神经性听力损失联系起来的报道。这些发现有助于理解该基因相关听力损失的基因型与听力表型之间的关系，这可能有助于临床管理和遗传咨询。
