IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科
学科主题神经病学
线粒体内膜易位酶8A基因新突变导致耳聋肌张力障碍综合征一家系
其他题名A novel mutation in the translocase of inner mitochondrial membrane 8 homolog A gene in a family with Mohr-Tranebjaerg syndrome
王璐1; 张巍1; 刘玉和1; 吕鹤1; 王朝霞1; 袁云1
关键词张力失调 智力障碍 视神经萎缩 聋盲障碍 膜转运蛋白质类 突变 Dystonia Intellectual Disability Optic Atrophy Deaf-blind Disorders Membrane Transport Proteins Mutation
刊名中华神经科杂志
2013
DOI10.3760/cma.j.issn.1006-7876.2013.04.007
46期:4页:243-246
收录类别中国科技核心期刊 ; CSCD
文章类型Journal Article
摘要目的 报道1个耳聋肌张力障碍综合征(Mohr-Tranebjaerg syndrome,MTS)家系的临床和基因突变特点.方法 收集1个MTS家系的临床资料,对该家系先证者(Ⅲ5)行视、听觉诱发电位,纯音测听,瞬态诱发耳声发射和畸变产物耳声发射检查,同时对Ⅲ5及该家系健康成员Ⅰ2、Ⅱ4、Ⅱ6进行线粒体内膜易位酶8A(TIMM8A)基因测序.结果 Ⅲ5男性,2岁后渐出现听力障碍、讲话欠清、双手指伸开困难和行走姿势异常.家系中Ⅲ1、Ⅲ2、Ⅲ3在2岁后均出现听力障碍,Ⅰ2、Ⅱ2、Ⅱ4和Ⅱ6分别在12岁左右出现视力轻度下降.Ⅲ5视觉诱发电位示双侧P100潜伏期延长,纯音测听示双耳重度感音神经性聋,听觉诱发电位双耳均无波形出现,耳声发射检查在双耳均未引出.基因测序示Ⅲ5TIMM8A基因内含子存在c.133-2delA剪切突变,同时Ⅰ2、Ⅱ4、Ⅱ6均检测到该位点突变.结论 MTS存在TIMM8A基因新突变.除感音神经性耳聋外,该病其他症状的发展在同一家族不同患者间存在明显差异,轻度视神经损害可在女性基因携带者中出现. Objective To report the clinical and genetic features in a family with Mohr-Tranebjaerg syndrome (MTS).Methods After collecting clinical data of the family,visual and auditory evoked potentials,pure tone audiometry,transient evoked otoacoustic emissions and distortion product otoacoustic emissions were carried out in proband (Ⅲ5).The translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) gene was sequenced in proband,Ⅰ2,Ⅱ 4 and Ⅱ 6.Results Ⅲ5,a 15-year-old boy presented with deafness,slurred speech,difficulty in finger extension and dystonia gradually since 2 years old.Ⅲ1,Ⅲ 2 and Ⅲ 3 presented with deafness at the age of 2.Ⅰ 2,Ⅱ 2,Ⅱ 4 and Ⅱ 6 showed mild decreased visual acuity at the age of 12.Visual evoked potentials revealed prolonged P100 latency in both eyes.Pure tone audiometry revealed severe sensorineural hearing loss.The auditory evoked potentials showed no wave in the bilateral ears.Otoacoustic emissions were not elicited bilaterally.A novel c.133-2delA mutation in TIMM8A gene was identified in Ⅲ 5,Ⅰ2,Ⅱ 4 and Ⅱ 6.Conclusions We confirm the MTS caused by a novel c.133-2delA mutation in TIMM8A gene.Except for the deafness,the development of other symptoms of the disease vary obviously from case to case in the same family.The female carriers with mild lesion of optic nerves.
语种中文
原文出处查看原文
Citation statistics
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/41279
Collection北京大学第一临床医学院_神经内科
作者单位1.100034,北京大学第一医院神经内科
2.100034,北京大学第一医院耳鼻喉科
Recommended Citation
GB/T 7714
王璐,张巍,刘玉和,等. 线粒体内膜易位酶8A基因新突变导致耳聋肌张力障碍综合征一家系[J]. 中华神经科杂志,2013,46(4):243-246.
APA 王璐,张巍,刘玉和,吕鹤,王朝霞,&袁云.(2013).线粒体内膜易位酶8A基因新突变导致耳聋肌张力障碍综合征一家系.中华神经科杂志,46(4),243-246.
MLA 王璐,et al."线粒体内膜易位酶8A基因新突变导致耳聋肌张力障碍综合征一家系".中华神经科杂志 46.4(2013):243-246.
Files in This Item:
There are no files associated with this item.
Related Services
Recommend this item
Bookmark
Usage statistics
Export to Endnote
谷歌学术
谷歌学术Similar articles in
[王璐]'s Articles
[张巍]'s Articles
[刘玉和]'s Articles
百度学术
百度学术Similar articles in
[王璐]'s Articles
[张巍]'s Articles
[刘玉和]'s Articles
必应学术
必应学术Similar articles in
[王璐]'s Articles
[张巍]'s Articles
[刘玉和]'s Articles
Terms of Use
No data!
Social Bookmark/Share
All comments (0)
No comment.
 

Items in the repository are protected by copyright, with all rights reserved, unless otherwise indicated.