Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene

ABSTRACT The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the protection of noise‐induced hearing loss (NIHL). Our present study reports a missense variant in the P2RX2 gene (c.178G > T (p.V60L)), for the second time worldwide, in a five‐generation kindred living in Henan, China. Despite carrying the same variant, the affected members in this family appear to present with earlier‐onset hearing loss and poorer hearing compared to the original DFNA41 families. In addition, this study supplements some content that was not covered in previous reports. We quantitatively evaluated the pain perception ability of some members using the Pain Vision PS‐2100 system, and further found an interesting clinical manifestation, that is, hyperalgesia, in heterozygotes for P2RX2 p.V60L. The cochlear implant (CI) was also provided for the proband of profound deafness, resulting in satisfactory clinical outcomes. Finally, we carried out a systematic review of recently published articles on the P2RX2 gene, which is beneficial for better understanding the role of the P2RX2 gene in the auditory system and the pathogenic mechanisms in sensorineural hearing loss (SNHL).