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先天性/儿童期起病的非综合征性感音神经性听力损失患者中GJB2基因35delG突变、GJB6基因del（GJB6-D13S1830）、OTOF基因Q829X以及线粒体12S rRNA基因A1555G的患病率

[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].

作者信息

Gallo-Terán J, Morales-Angulo C, Rodríguez-Ballesteros M, Moreno-Pelayo M A, del Castillo I, Moreno F

机构信息

Servicio de ORL, Hospital Marqués de Valdecilla, Santander, Cantabria.

出版信息

Acta Otorrinolaringol Esp. 2005 Dec;56(10):463-8. doi: 10.1016/s0001-6519(05)78649-0.

DOI:10.1016/s0001-6519(05)78649-0
PMID:16425640
Abstract

INTRODUCTION

The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome.

PATIENTS AND METHODS

Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset.

RESULTS

The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%).

CONCLUSIONS

These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.

摘要

引言

西班牙人群中导致非综合征性听力障碍的最常见突变是连接蛋白26基因（GJB2）中的35delG突变、连接蛋白30基因（GJB6）中的del(GJB6 - D13S1830)缺失、耳铁蛋白基因（OTOF）中的Q829X突变以及线粒体基因组12S rRNA基因中的A1555G突变。

患者与方法

对来自坎塔布里亚的38例先天性/儿童期起病的非综合征性感音神经性听力障碍患者进行了这些突变的筛查。

结果

在9例患者（23.7%）中检测到A1555G突变纯合子。3例个体为35delG突变杂合子（7.9%）。1例存在杂合性del(GJB6 - D13S1830)缺失（2.6%）。1例受试者为Q829X突变纯合子（2.6%）。

结论

在我们的人群中，这四种突变存在于36.8%的非综合征性听力障碍病例中。

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