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对经连接蛋白26基因(GJB2)突变基因分型的听力损失患者的心电图参数评估。

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.

作者信息

Sanecka Agnieszka, Biernacka Elzbieta Katarzyna, Sosna Magdalena, Mueller-Malesinska Malgorzata, Ploski Rafal, Skarzynski Henryk, Piotrowicz Ryszard

机构信息

Institute of Cardiology, Warsaw, Poland.

Institute of Physiology and Pathology of Hearing, World Hearing Center, Nadarzyn, Poland.

出版信息

Braz J Otorhinolaryngol. 2017 Mar-Apr;83(2):176-182. doi: 10.1016/j.bjorl.2016.02.008. Epub 2016 Apr 22.

Abstract

INTRODUCTION

Several studies have associated congenital sensorineural hearing loss in children with prolongation of the cardiac parameter QTc. The cause of this association is unknown. At the same time, mutations in GJB2, which encodes connexin 26, are the most common cause of congenital hearing impairment.

OBJECTIVE

To compare electrocardiographic parameters (PR interval, QRS complex, and QTc interval) in patients with hearing loss who were tested for mutations in GJB2 and GJB6 to investigate whether these mutations affect electrical activity of the heart.

METHODS

346 patients (176 males, 170 females) with sensorineural hearing loss of 30dB HL or more, aged 21.8±19.9 years (including 147 children <14 years), underwent both genetic study for GJB2 and GJB6 mutations and electrocardiography.

RESULTS

Mutations in GJB2, including homozygotes and heterozygotes, were found in 112 (32%) patients. There were no significant differences in ECG parameters between groups of patients with and without mutations in GJB2. No differences were observed either in men (mean PR with mutation: 155±16.6 vs. 153.6±30.1 without; QRS: 99.9±9.9 vs. 101.1±15.4; QTc: 414.9±29.9 vs. 412.4±25.7) or women (mean PR with: 148.7±21 vs. 143.8±22.8 without; QRS: 94.8±7.6 vs. 92.9±9.6; QTc: 416.8±20.6 vs. 424.9±22.8). In similar fashion, we did we find any significant differences between groups of children with and without GJB2 mutations (mean PR with: 126.3±19.6 vs. 127±19.7 without; QRS: 80.7±9.5 vs. 79.4±11.6; QTc: 419.7±23.5 vs. 419.8±24.8).

CONCLUSION

No association was found between the presence of GJB2 mutations encoding connexin 26 in patients with hearing loss and their ECG parameters (PR, QRS, QTc).

摘要

引言

多项研究表明儿童先天性感音神经性听力损失与心脏参数QTc延长有关。这种关联的原因尚不清楚。同时,编码连接蛋白26的GJB2基因突变是先天性听力障碍最常见的原因。

目的

比较进行GJB2和GJB6基因突变检测的听力损失患者的心电图参数(PR间期、QRS波群和QTc间期),以研究这些突变是否影响心脏电活动。

方法

346例感音神经性听力损失30dB HL及以上的患者(176例男性,170例女性),年龄21.8±19.9岁(包括147例14岁以下儿童),接受了GJB2和GJB6基因突变的遗传学研究及心电图检查。

结果

在112例(32%)患者中发现了GJB2突变,包括纯合子和杂合子。GJB2有突变和无突变的患者组之间的心电图参数无显著差异。男性(有突变者平均PR:155±16.6,无突变者为153.6±30.1;QRS:99.9±9.9对101.1±15.4;QTc:414.9±29.9对412.4±25.7)和女性(有突变者平均PR:148.7±21,无突变者为143.8±22.8;QRS:94.8±7.6对92.9±9.6;QTc:416.8±20.6对424.9±22.8)均未观察到差异。同样,有和无GJB2突变的儿童组之间也未发现任何显著差异(有突变者平均PR:126.3±19.6,无突变者为127±19.7;QRS:80.7±9.5对79.4±11.6;QTc:419.7±23.5对419.8±24.8)。

结论

听力损失患者中编码连接蛋白26的GJB2突变与其心电图参数(PR、QRS、QTc)之间未发现关联。

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引用本文的文献

本文引用的文献

1
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.
Laryngoscope. 2014 Feb;124(2):E34-53. doi: 10.1002/lary.24332. Epub 2013 Oct 8.
2
Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.
Otol Neurotol. 2011 Feb;32(2):259-64. doi: 10.1097/MAO.0b013e31820160fa.
3
Gap junctions in inherited human disease.
Pflugers Arch. 2010 Jul;460(2):451-66. doi: 10.1007/s00424-010-0789-1. Epub 2010 Feb 7.
4
Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.
Int J Audiol. 2009;48(6):363-70. doi: 10.1080/14992020802607449.
5
[Structure and physiological function of connexin proteins].
Postepy Hig Med Dosw (Online). 2008 Nov 20;62:632-41.
6
GJB2 mutations and degree of hearing loss: a multicenter study.
Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19.
7
Connexins and cell signaling in development and disease.
Annu Rev Cell Dev Biol. 2004;20:811-38. doi: 10.1146/annurev.cellbio.19.111301.144309.
8
Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
Laryngoscope. 2004 Apr;114(4):607-11. doi: 10.1097/00005537-200404000-00003.
9
Connexin gene pathology.
Clin Exp Dermatol. 2003 Jul;28(4):397-409. doi: 10.1046/j.1365-2230.2003.01312.x.
10
Structural and functional diversity of connexin genes in the mouse and human genome.
Biol Chem. 2002 May;383(5):725-37. doi: 10.1515/BC.2002.076.

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