Genes, Vol. 15, Pages 489: Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort

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.

Source: Genes - April 12, 2024 Category: Genetics & Stem Cells Authors: Naoko Sakuma Shin-ya Nishio Shin-ichi Goto Yohei Honkura Kiyoshi Oda Hidehiko Takeda Marina Kobayashi Kozo Kumakawa Satoshi Iwasaki Masahiro Takahashi Taku Ito Yasuhiro Arai Yasuhiro Isono Natsuko Obara Takeshi Matsunobu Kimihiro Okubo Shin-ichi Usami Tags: Article Source Type: research