One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome.

IF 1.1 Q3 OTORHINOLARYNGOLOGY

Journal of Audiology and Otology Pub Date : 2022-04-01 Epub Date: 2021-11-09 DOI:10.7874/jao.2021.00381

F Ceyda Akin Ocal, Haluk Kavus, Bulent Satar, Davut Pehli van

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Abstract

The purpose of this study was to evaluate the clinical and genetic findings of 53-year-old monozygotic twins who had bilateral otosclerosis and right-sided superior semicircular canal near dehiscence (SSCND). Monozygotic twins at the age of 53 presented with conductive hearing loss and normal tympanic membranes. Detailed audiovestibular testing and computed tomography scan revealed that both patients had concurrent otosclerosis and SSCND. Conservative management (hearing aids) was the treatment for these patients. Exome sequencing (ES) for the twins and their affected mother identified a heterozygous missense variant in the EYA4 (c.1744G>A; p.Glu582Lys) gene. This is the first case report to present these separate entities identified in monozygotic twins with a heterozygous missense variant in the EYA4 gene. Our ES data may imply a possible causal relationship or association between variants in the EYA4 gene and concurrent otosclerosis and SSCND.

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单卵双胞胎的一个遗传缺陷和两个相关实体:耳硬化和上半规管近裂综合征。

本研究的目的是评估53岁双侧耳硬化和右侧上半圆形管近裂(SSCND)的同卵双胞胎的临床和遗传学表现。53岁的同卵双胞胎表现为传导性听力丧失，鼓膜正常。详细的听庭测试和计算机断层扫描显示，两例患者同时存在耳硬化和SSCND。保守治疗(助听器)是这些患者的治疗方法。对这对双胞胎及其患病母亲的外显子组测序(ES)在EYA4基因中发现了一个杂合错义变异(c.1744G> a;p.Glu582Lys)基因。这是首次报道在EYA4基因杂合错义变异的同卵双胞胎中发现这些单独实体的病例。我们的ES数据可能暗示了EYA4基因变异与并发耳硬化和SSCND之间可能存在因果关系或关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Audiology and Otology OTORHINOLARYNGOLOGY-

CiteScore

1.90

自引率

9.10%

发文量

期刊介绍： Journal of Audiology and Otology (JAO) (formerly known as Korean Journal of Audiology) aims to publish the most advanced findings for all aspects of the auditory and vestibular system and diseases of the ear using state-of-the-art techniques and analyses. The journal covers recent trends related to the topics of audiology, otology, and neurotology conducted by professionals, with the goal of providing better possible treatment to people of all ages, from infants to the elderly, who suffer from auditory and/or vestibular disorders and thus, improving their quality of life. This journal encourages the submission of review papers about current professional issues, research papers presenting a scientific base and clinical application, and case papers with unique reports or clinical trials. We also invite letters to the editor and papers related to the manufacture and distribution of medical devices. This journal provides integrated views from otologists, audiologists, and other healthcare practitioners, offering readers high quality scientific and clinical information. This peer-reviewed and open access journal has been the official journal of the Korean Audiological Society since 1997 and of both the Korean Audiological Society and the Korean Otological Society since 2017. It is published in English four times a year in January, April, July, and October.