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© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

The PTPRQ 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 PTPRQ variants have been reported to cause SNHL. However, the detailed clinical features of PTPRQ-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 PTPRQ 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 PTPRQ-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 PTPRQ-associated HL and may be relevant in clinical practice.

Details

Title
Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort
Author
Sakuma, Naoko 1 ; Nishio, Shin-ya 2   VIAFID ORCID Logo  ; Goto, Shin-ichi 3 ; Honkura, Yohei 4 ; Oda, Kiyoshi 5 ; Takeda, Hidehiko 6 ; Kobayashi, Marina 6 ; Kumakawa, Kozo 7 ; Iwasaki, Satoshi 8 ; Takahashi, Masahiro 8 ; Ito, Taku 9   VIAFID ORCID Logo  ; Arai, Yasuhiro 10 ; Isono, Yasuhiro 11 ; Obara, Natsuko 12 ; Matsunobu, Takeshi 1 ; Okubo, Kimihiro 1 ; Usami, Shin-ichi 2   VIAFID ORCID Logo 

 Department of Otorhinolaryngology, Head and Neck Surgery, Nippon Medical School, Tokyo 113-8603, Japan; [email protected] (N.S.); [email protected] (T.M.); [email protected] (K.O.) 
 Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto City 390-8621, Japan; [email protected] 
 Department of Otorhinolaryngology, Hirosaki University Graduate School of Medicine, Hirosaki 036-8560, Japan; [email protected] 
 Department of Otolaryngology-Head and Neck Surgery, Tohoku University School of Medicine, Sendai 980-8575, Japan; [email protected] 
 Department of Otolaryngology, Tohoku Rosai Hospital, Sendai 981-8563, Japan; [email protected] 
 Department of Otorhinolaryngology, Toranomon Hospital, Tokyo 105-8470, Japan; [email protected] (H.T.); [email protected] (M.K.) 
 Department of Otolaryngology, Kamio Memorial Hospital, Tokyo 101-0063, Japan; [email protected]; Akasaka Toranomon Clinic, Tokyo 107-0052, Japan 
 Department of Otorhinolaryngology, International University of Health and Welfare, Mita Hospital, Tokyo 108-8329, Japan; [email protected] (S.I.); [email protected] (M.T.) 
 Department of Otorhinolaryngology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan; [email protected] 
10  Department of Otorhinolaryngology-Head and Neck Surgery, Yokohama City University School of Medicine, Yokohama 236-0004, Japan; [email protected] 
11  Department of Otolaryngology, Yokohama City University Medical Center, Yokohama 232-0024, Japan; [email protected] 
12  Department of Otolaryngology, Gifu University Graduate School of Medicine, Gifu City 501-1194, Japan; [email protected] 
First page
489
Publication year
2024
Publication date
2024
Publisher
MDPI AG
e-ISSN
20734425
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3046879137
Copyright
© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.