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Background  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.    Methods  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.    Results  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).    Conclusion  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.

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct