Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.

IF 1.3 4区 医学 Q3 OTORHINOLARYNGOLOGY
Yung-Hsuan Chen, Wei-Che Lin, Chung-Feng Hwang, Meng-Han Tsai, Chao-Hui Yang
{"title":"Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.","authors":"Yung-Hsuan Chen, Wei-Che Lin, Chung-Feng Hwang, Meng-Han Tsai, Chao-Hui Yang","doi":"10.1177/00034894241261491","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation.</p><p><strong>Methods: </strong>A chart review and a review of the literature.</p><p><strong>Results: </strong>We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.</p><p><strong>Conclusions: </strong>This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.</p>","PeriodicalId":50975,"journal":{"name":"Annals of Otology Rhinology and Laryngology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Otology Rhinology and Laryngology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/00034894241261491","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/14 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation.

Methods: A chart review and a review of the literature.

Results: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature.

Conclusions: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant.

由 SLC26A4 基因变异导致的彭德综合征家族的内耳形态变异。
目的:彭德综合征是一种常染色体隐性遗传疾病,通常与编码pendrin蛋白的SLC26A4基因的致病变异有关。鉴于该病为常染色体隐性遗传,一旦确诊为彭德综合征,追查家族史和筛查兄弟姐妹就变得至关重要。本病例报告旨在强调一个被诊断为彭德综合征的家族中内耳形态的变异性,该家族成员均携带相同的 SLC26A4 基因突变:方法:病历回顾和文献综述:有趣的是,家族成员的临床表现,尤其是内耳畸形,存在差异。值得注意的是,有一名家族成员表现出正常的耳蜗前庭结构形态,这在文献中鲜有报道:本报告强调了当原告表现出典型的彭德综合征症状时,进行基因检测和家族咨询的重要性。结论:本报告强调了当原告表现出典型的彭德综合征症状时,进行基因检测和家族咨询的重要性,同时也强调了即使是同一种 SLC26A4 基因变异体,其家族成员之间的内耳形态也可能存在差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
3.10
自引率
7.10%
发文量
171
审稿时长
4-8 weeks
期刊介绍: The Annals of Otology, Rhinology & Laryngology publishes original manuscripts of clinical and research importance in otolaryngology–head and neck medicine and surgery, otology, neurotology, bronchoesophagology, laryngology, rhinology, head and neck oncology and surgery, plastic and reconstructive surgery, pediatric otolaryngology, audiology, and speech pathology. In-depth studies (supplements), papers of historical interest, and reviews of computer software and applications in otolaryngology are also published, as well as imaging, pathology, and clinicopathology studies, book reviews, and letters to the editor. AOR is the official journal of the American Broncho-Esophagological Association.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信