Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
<p>Abstract</p> <p>Background</p> <p>Mutations in <it>SLC26A4 </it>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 relationshi...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-09-01
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| Series: | Journal of Translational Medicine |
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| Online Access: | http://www.translational-medicine.com/content/9/1/167 |
| _version_ | 1811259851542626304 |
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| author | Yan Xiaofei Zhang Xin Kang Dongyang Wang Guojian Yuan Yongyi Han Dongyi Huang Shasha Meng Xiaoxiao Dong Min Dai Pu |
| author_facet | Yan Xiaofei Zhang Xin Kang Dongyang Wang Guojian Yuan Yongyi Han Dongyi Huang Shasha Meng Xiaoxiao Dong Min Dai Pu |
| author_sort | Yan Xiaofei |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Mutations in <it>SLC26A4 </it>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 <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population.</p> <p>Methods</p> <p>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 <it>SLC26A4 </it>were analyzed in all subjects.</p> <p>Results</p> <p>DNA sequence analysis of <it>SLC26A4 </it>was performed in all 144 patients. In the different groups, the detection rate of the <it>SLC26A4 </it>mutation differed. In the isolated MD group, only one single allelic mutation in <it>SLC26A4 </it>was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic <it>SLC26A4 </it>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 <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of <it>SLC26A4 </it>mutation among the groups (P < 0.001). The detection rate of <it>SLC26A4 </it>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 <it>SLC26A4 </it>between the MD group and IEM group (P > 0.5).</p> <p>Conclusion</p> <p>Although mutations in the <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene in the Chinese population examined. Hearing impairment in patients with isolated MD may be caused by factors other than mutations in the <it>SLC26A4 </it>gene.</p> |
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| institution | Directory Open Access Journal |
| issn | 1479-5876 |
| language | English |
| last_indexed | 2024-04-12T18:37:53Z |
| publishDate | 2011-09-01 |
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| series | Journal of Translational Medicine |
| spelling | doaj.art-696075a6682341c2a3414fa41f0644622022-12-22T03:20:52ZengBMCJournal of Translational Medicine1479-58762011-09-019116710.1186/1479-5876-9-167Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueductYan XiaofeiZhang XinKang DongyangWang GuojianYuan YongyiHan DongyiHuang ShashaMeng XiaoxiaoDong MinDai Pu<p>Abstract</p> <p>Background</p> <p>Mutations in <it>SLC26A4 </it>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 <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population.</p> <p>Methods</p> <p>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 <it>SLC26A4 </it>were analyzed in all subjects.</p> <p>Results</p> <p>DNA sequence analysis of <it>SLC26A4 </it>was performed in all 144 patients. In the different groups, the detection rate of the <it>SLC26A4 </it>mutation differed. In the isolated MD group, only one single allelic mutation in <it>SLC26A4 </it>was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic <it>SLC26A4 </it>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 <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of <it>SLC26A4 </it>mutation among the groups (P < 0.001). The detection rate of <it>SLC26A4 </it>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 <it>SLC26A4 </it>between the MD group and IEM group (P > 0.5).</p> <p>Conclusion</p> <p>Although mutations in the <it>SLC26A4 </it>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 <it>SLC26A4 </it>gene in the Chinese population examined. Hearing impairment in patients with isolated MD may be caused by factors other than mutations in the <it>SLC26A4 </it>gene.</p>http://www.translational-medicine.com/content/9/1/167<it>SLC26A4</it>hearing lossMondini dysplasiaenlarged vestibular aqueductinner ear malformation. |
| spellingShingle | Yan Xiaofei Zhang Xin Kang Dongyang Wang Guojian Yuan Yongyi Han Dongyi Huang Shasha Meng Xiaoxiao Dong Min Dai Pu Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct Journal of Translational Medicine <it>SLC26A4</it> hearing loss Mondini dysplasia enlarged vestibular aqueduct inner ear malformation. |
| title | Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct |
| title_full | Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct |
| title_fullStr | Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct |
| title_full_unstemmed | Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct |
| title_short | Extremely discrepant mutation spectrum of <it>SLC26A4 </it>between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct |
| title_sort | extremely discrepant mutation spectrum of it slc26a4 it between chinese patients with isolated mondini deformity and enlarged vestibular aqueduct |
| topic | <it>SLC26A4</it> hearing loss Mondini dysplasia enlarged vestibular aqueduct inner ear malformation. |
| url | http://www.translational-medicine.com/content/9/1/167 |
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