Analysis between phenotypes and genotypes of inner ear malformation

Abstract

Background: The clinical characteristics of LVAS have attracted more and more attention, its audiology and imaging features have also been deeply studied.

Objective: To analyze phenotypes, genotypes of EVA, and find out the relationship between them.

Methods: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology were carried out after the patients signed informed consent. SPSS19.0 software was used.

Result: 1. Three types malformations include EVA, EVA with Mondini and Mondini were found. They accounted for 48.20%, 40.10%, and 11.70%. 2. The SLC26A4 gene mutation frequency was (47/53) 88.68% in EVA patients. The most common genotype was c.919-2A > G/c.919-2A > G, accounting for 28.30%. The most common mutation type was c.9I9-2A > G. 3. GJB2 and SLC26A4 gene mutation frequencies were significantly different (χ2＝65.185, p<.001).

Conclusions: 1. EVA patients with severe sensorineural hearing loss were always diagnosed in childhood and Cochlear implantation was feasible for these patients with the bilateral hearing loss. 2. SLC26A4 gene was closely related to EVA. 3. GJB2 and mtDNA genes were not responsible for EVA.

Significance: The relationship between genotype and clinical phenotype provides a theoretical basis for future gene diagnosis and prevention and treatment of LVAS.

Chinese abstract

背景：LVAS的临床特征受到越来越多的关注, 其听力学和影像学特征也得到了深入的研究。

目的：分析EVA的表型和基因型, 并找出它们之间的关系。

方法：对60例EVA患者进行了听力测定、颞骨高分辨率CT和内耳MRI检查。在患者签署知情同意书后进行SNPscan技术检测。使用SPSS19.0软件。

结果： 1. 发现三种类型的畸形包括EVA, 带有Mondini的EVA和Mondini。他们分别占48.20％、40.10％和11.70％。2. EVA患者的SLC26A4基因突变频率为（47/53）88.68％。最常见的基因型是c.919-2A> G / c.919-2A> G, 占28.30％。最常见的突变型是c.9I9-2A> G.3. GJB2和SLC26A4基因突变频率有显着差异（χ2= 65.185, p <.001）。

结论： 1.患有严重感音神经性耳聋的EVA患者总是在儿童时期被诊断出来。对于这些双侧听力损失患者, 人工耳蜗植入是可行的。2. SLC26A4基因与EVA密切相关。3. GJB2和mtDNA基因与EVA无关。

意义：基因型与临床表型的关系为LVAS的未来基因诊断和预防治疗提供了理论依据。

Keywords:

• Deafness
• hearing loss
• gene
• enlarged vestibular aqueduct
• Mondini malformation
• GJB2
• SLC26A4
• mtDNA

Disclosure statement

No potential conflict of interest was reported by the authors.