A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

突变 遗传学 祖先 生物 医学 地理 基因 考古
作者
Erik Fransén,Margriet Verstreken,Steven J. H. Bom,F. X. Lemaire,Martijn H. Kemperman,Y.J.M. de Kok,Floris L. Wuyts,W. I. M. Verhagen,P.L.M. Huygen,Wyman T. McGuirt,Richard J. Smith,Lionel Van Maldergem,Frank Declau,Cor W. R. J. Cremers,Paul Van de Heyning,Frans P.M. Cremers,Guy Van Camp
出处
期刊:Journal of Medical Genetics [BMJ]
卷期号:38 (1): 61-65 被引量:44
标识
DOI:10.1136/jmg.38.1.61
摘要

Editor—Hearing impairment is extremely heterogeneous, both phenotypically and genetically. It is the most frequent form of sensory impairment in the western world, affecting approximately 1/1000 newborns and approximately half of the people above the age of 80.1 ,2 In all these cases hereditary factors are a prominent cause. So far, more than 60 loci for monogenic non-syndromal hearing impairment have been described and 14 responsible genes have been identified (Van Camp and Smith, Hereditary Hearing Loss Homepage http://dnalab-www.uia.ac.be/dnalab/hhh). Balance problems are also are relatively frequent, but considerably less is known about the causes. Purely genetic forms of vestibular impairment are extremely rare and no genes have been identified yet. However, it is commonly known that many hearing impaired people also suffer from balance problems. Moreover, it is now recognised that many syndromes with genetic hearing impairment also show a dysfunction of the vestibular system.3 The prevalence of vestibular dysfunction may be severely underestimated, as it often remains unnoticed until specialised vestibular tests are performed. Owing to the intimate relationship between the auditory and the vestibular systems, there are probably many genes with a function in both systems. DFNA9 is the only form of hereditary non-syndromal hearing impairment where strongly marked vestibular involvement has been described. This locus has been mapped to chromosome 14q12-q13.4Progressive sensorineural hearing impairment is present, usually starting between the ages of 35 and 50 in the high frequencies.5-7 This is paralleled by a gradually deteriorating sense of balance, leading to instability (most notably in the dark). Some, but not all patients periodically suffer from vertigo attacks associated with nausea, tinnitus, or aural fullness, which is reminiscent of the symptoms of Meniere's disease.5Eventually, after a disease course of approximately 20 years, patients become severely to profoundly deaf …
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
五十七完成签到,获得积分20
1秒前
Lee完成签到,获得积分10
1秒前
科研通AI5应助hhy采纳,获得10
1秒前
2秒前
2秒前
jeniwu发布了新的文献求助10
3秒前
根号3完成签到 ,获得积分10
4秒前
黄宇航完成签到,获得积分10
4秒前
聪慧的正豪应助SCT11采纳,获得10
5秒前
Akim应助隐形的星月采纳,获得10
6秒前
勤奋流沙完成签到 ,获得积分10
6秒前
7秒前
7秒前
78888发布了新的文献求助10
8秒前
8秒前
量子星尘发布了新的文献求助10
8秒前
Lwssss完成签到,获得积分10
9秒前
传奇3应助Daemon采纳,获得10
10秒前
10秒前
fishmire完成签到,获得积分10
12秒前
Owen应助五十七采纳,获得10
12秒前
围城发布了新的文献求助10
13秒前
一个人哭真爱无敌完成签到,获得积分10
13秒前
A吞发布了新的文献求助30
14秒前
xiaolei001应助科研通管家采纳,获得10
15秒前
lzx完成签到,获得积分10
15秒前
xiaolei001应助科研通管家采纳,获得10
15秒前
瑾沫流年应助科研通管家采纳,获得10
15秒前
华仔应助科研通管家采纳,获得10
15秒前
xiaolei001应助科研通管家采纳,获得10
15秒前
完美世界应助科研通管家采纳,获得10
15秒前
xiaolei001应助科研通管家采纳,获得10
15秒前
16秒前
加减乘除发布了新的文献求助10
16秒前
binky完成签到,获得积分10
17秒前
寮信完成签到,获得积分10
17秒前
克林沙星完成签到,获得积分10
18秒前
fz完成签到,获得积分10
18秒前
wanci应助78888采纳,获得10
18秒前
huan完成签到,获得积分10
19秒前
高分求助中
(应助此贴封号)【重要!!请各用户(尤其是新用户)详细阅读】【科研通的精品贴汇总】 10000
Einführung in die Rechtsphilosophie und Rechtstheorie der Gegenwart 1500
Binary Alloy Phase Diagrams, 2nd Edition 1000
青少年心理适应性量表(APAS)使用手册 700
Air Transportation A Global Management Perspective 9th Edition 700
Socialization In The Context Of The Family: Parent-Child Interaction 600
DESIGN GUIDE FOR SHIPBOARD AIRBORNE NOISE CONTROL 600
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 内科学 生物化学 物理 计算机科学 纳米技术 遗传学 基因 复合材料 化学工程 物理化学 病理 催化作用 免疫学 量子力学
热门帖子
关注 科研通微信公众号,转发送积分 4991103
求助须知:如何正确求助?哪些是违规求助? 4239754
关于积分的说明 13208013
捐赠科研通 4034494
什么是DOI,文献DOI怎么找? 2207347
邀请新用户注册赠送积分活动 1218369
关于科研通互助平台的介绍 1136729