与 COCH 基因变异体(c.263G>C)有关的听力和前庭功能障碍。

IF 2.6 3区 医学 Q1 OTORHINOLARYNGOLOGY
Aida Veiga Alonso, Rocío González Aguado, Andrea Martínez Camerano, Julia Fernández Enseñat, Esther Onecha de la Fuente, Carmelo Morales Angulo
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摘要

本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the COCH Gene.

Objective: To ascertain pathogenic variants frequency and type in the COCH gene among Cantabrian patients with nonsyndromic hereditary hearing loss (HL), and to understand their cochleovestibular manifestations.

Study design: An observational study on patients with postlingual nonsyndromic sensorineural hearing loss (SNHL), who underwent a genetic study using next-generation sequencing (gene panel) in the otolaryngology clinics between January 2019 and December 2023.

Setting: Referral center Marqués de Valdecilla University Hospital in Santander (Spain).

Methods: A cohort of 248 otolaryngologic clinic-referred patients suspected of genetic SNHL underwent sequencing analysis targeting 231 genes.

Results: A likely pathogenic or pathogenic variant causing HL was found in 57 (22.8%) patients. Among them, 7 (2.8%) were heterozygous carriers of the c.263G>C variant in the LCCL domain of the COCH gene, included as index cases. Subsequent familial segregation studies were performed. A total of 22 genetically and clinically studied patients were included. All but 3 family members displayed bilateral progressive SNHL starting in adulthood. Thirteen patients reported instability, but none met Meniere's disease criteria.

Conclusion: COCH gene variants are frequent in Cantabria. A variant with pathogenic evidence (c.263G>C in the LCCL domain) was detected. The phenotype observed is similar to a subgroup of patients with other variants described in the same functional domain: progressive SNHL and instability secondary to vestibular hypofunction.

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来源期刊
Otolaryngology- Head and Neck Surgery
Otolaryngology- Head and Neck Surgery 医学-耳鼻喉科学
CiteScore
6.70
自引率
2.90%
发文量
250
审稿时长
2-4 weeks
期刊介绍: Otolaryngology–Head and Neck Surgery (OTO-HNS) is the official peer-reviewed publication of the American Academy of Otolaryngology–Head and Neck Surgery Foundation. The mission of Otolaryngology–Head and Neck Surgery is to publish contemporary, ethical, clinically relevant information in otolaryngology, head and neck surgery (ear, nose, throat, head, and neck disorders) that can be used by otolaryngologists, clinicians, scientists, and specialists to improve patient care and public health.
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