Detailed Clinical Features of PTPRQ -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort

• Published in: Genes Vol. 15; no. 4; p. 489
• Main Authors: Sakuma, Naoko, Nishio, Shin-Ya, Goto, Shin-Ichi, Honkura, Yohei, Oda, Kiyoshi, Takeda, Hidehiko, Kobayashi, Marina, Kumakawa, Kozo, Iwasaki, Satoshi, Takahashi, Masahiro, Ito, Taku, Arai, Yasuhiro, Isono, Yasuhiro, Obara, Natsuko, Matsunobu, Takeshi, Okubo, Kimihiro, Usami, Shin-Ichi
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 12.04.2024
• Subjects: Adolescent; Adult; Child; Child, Preschool; Children; Cochlea; Cochlear implants; Cohort Studies; Congenital diseases; Deafness; DNA sequencing; East Asian People; Female; Genes; Genetic analysis; Genomes; Hearing aids; Hearing loss; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - pathology; Hearing protection; High-Throughput Nucleotide Sequencing; Humans; Infant; Japan; Male; Middle Aged; Mutation; Patients; Proteins; Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics; Transplants & implants; Vertigo; Japan; United States > US; non-syndromic hearing loss; congenital onset hearing loss; childhood onset hearing loss; PTPRQ; cochlear implantation; DFNA73; DFNB84; progressive hearing loss
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes15040489

The gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative variants have been reported to cause SNHL. However, the detailed clinical features of -associated hearing loss (HL) remain unclear. In this study, 15,684 patients with SNHL were enrolled and genetic analysis was performed using massively parallel DNA sequencing (MPS) for 63 target deafness genes. We identified 17 possibly disease-causing variants in 13 Japanese patients, with 15 of the 17 variants regarded as novel. The majority of variants identified in this study were loss of function. Patients with -associated HL mostly showed congenital or childhood onset. Their hearing levels at high frequency deteriorated earlier than that at low frequency. The severity of HL progressed from moderate to severe or profound HL. Five patients with profound or severe HL received cochlear implantation, and the postoperative sound field threshold levels and discrimination scores were favorable. These findings will contribute to a greater understanding of the clinical features of -associated HL and may be relevant in clinical practice.