Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China.
J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.
Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in SLC26A4 and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the SLC26A4 gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population.
In total, 144 patients with sensorineural hearing loss were included and subjected to high-resolution temporal bone CT. Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified. The coding exons of SLC26A4 were analyzed in all subjects.
DNA sequence analysis of SLC26A4 was performed in all 144 patients. In the different groups, the detection rate of the SLC26A4 mutation differed. In the isolated MD group, only one single allelic mutation in SLC26A4 was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. Also, in the EVA group, biallelic and monoallelic SLC26A4 mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. These percentages were identical to those in the EVA plus MD group. Only two patients carried monoallelic mutations of the SLC26A4 gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of SLC26A4 mutation among the groups (P<0.001). The detection rate of SLC26A4 mutation in the isolated MD group was significantly lower than in the EVA group (with or without MD; P<0.001), and there was no significant difference in the detection rate of SLC26A4 between the MD group and IEM group (P>0.5).
Although mutations in the SLC26A4 gene were frequently found in Chinese EVA patients with and without MD, there was no evidence to show a relationship between isolated MD and the SLC26A4 gene in the Chinese population examined. Hearing impairment in patients with isolated MD may be caused by factors other than mutations in the SLC26A4 gene.
SLC26A4 基因突变可导致 Pendred 综合征（伴甲状腺肿的耳聋）或 DFNB4（伴内耳畸形的非综合征性耳聋，如扩大的前庭导水管或 Mondini 畸形）。SLC26A4 基因突变与不伴有扩大的前庭导水管的 Mondini 畸形之间的关系尚未在任何中国耳聋人群中进行研究。本研究旨在评估 SLC26A4 基因中的突变是否会导致中国人群中不伴有扩大的前庭导水管的 Mondini 畸形（孤立性 Mondini 畸形）。
共纳入 144 例感音神经性聋患者，并进行高分辨率颞骨 CT 检查。其中，28 例伴有孤立性 Mondini 发育不良（MD 组）、50 例伴有扩大的前庭导水管合并 Mondini 发育不良（EVA 伴 MD 组）、50 例伴有扩大的前庭导水管而无 Mondini 发育不良（EVA 组）和 16 例伴有其他内耳畸形（IEM 组）的患者。对所有受试者的 SLC26A4 编码外显子进行分析。
对 144 例患者均进行了 SLC26A4 的 DNA 序列分析。在不同组中，SLC26A4 突变的检出率不同。在孤立性 MD 组中，仅在 1 例患者（1/28，3.6%）中发现 SLC26A4 中单个等位基因突变。在 EVA 伴 MD 组中，46 例（46/50，92.0%）和 3 例（3/50，6.0%）患者存在 SLC26A4 双等位基因突变和单等位基因突变。同样，在 EVA 组中，46 例（46/50，92.0%）和 3 例（3/50，6.0%）患者存在 SLC26A4 双等位基因突变和单等位基因突变。这些百分比与 EVA 伴 MD 组相同。在 IEM 组中，仅 2 例患者携带 SLC26A4 基因的单等位基因突变（2/16，12.5%）。各组之间 SLC26A4 基因突变的频率存在显著差异（P<0.001）。孤立性 MD 组 SLC26A4 突变的检出率明显低于 EVA 组（有或无 MD；P<0.001），而 MD 组与 IEM 组之间 SLC26A4 突变的检出率无显著差异（P>0.5）。
虽然 SLC26A4 基因突变在中国 EVA 伴或不伴 MD 患者中经常发现，但在本研究检测的中国人群中，没有证据表明孤立性 MD 与 SLC26A4 基因之间存在关联。孤立性 MD 患者的听力损伤可能是由 SLC26A4 基因突变以外的因素引起的。
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