Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct

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• 作者：Mingming Wang^a ; ^b ; Fengguo Zhang^a ; ^b ; Lei Xu^a ; ^b ; Yun Xiao^a ; ^b ; Jianfeng Li^a ; ^b ; Zhaomin Fan^a ; ^b ; Qian Sun^c ; Xiaohui Bai^a ; ^b ; ^{sphbaixiaohui@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Haibo Wang^a ; ^b ; ^{whbotologic797@163.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Hearing loss ; SLC26A4 ; Mutation ; Enlarged vestibular aqueduct
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：90
• 期：Complete
• 页码：170-174
• 全文大小：1438 K

文摘

To identify the disease-related SLC26A4 mutants in a Chinese Han pedigree associated with Enlarged vestibular aqueduct (EVA).

Methods

EVA diagnosis was based on the family history, clinical examinations, systematically audiometric evaluations, high-resolution computed tomography (HRCT) of the temporal bone, and magnetic resonance imaging (MRI) of inner ear. Sanger sequencing and mutation analysis of the SLC26A4 gene were performed in all members of this family to identify the disease-related SLC26A4 mutants. Mutations in the SLC26A4 gene were compared with 200 ethnically matched control persons to exclude common polymorphism.

Results

All members in this family were negative for systemic and thyroid diseases. There were three subjects (I-2, II-2 and II-3) with bilateral sensorineural deafness since childhood. Temporal bone HRCT scans and inner ear MRI showed bilateral enlarged vestibular aqueduct with Mondini malformation in II-2 and II-3. A novel SLC26A4 splice-site mutation c.1001 + 5G > C was identified in compound heterozygosity with the mutation c.919-2A > G in the proband and in II-2. This novel compound heterozygote of two splice site mutations was not found in 200 normal hearing Chinese Han controls.

Conclusions

A novel splice site mutation of c.1001 + 5G > C was identified, and the novel compound heterozygote of two splice site mutations, c.1001 + 5G > C and c.919-2A > G, in the SLC26A4 gene has been linked to hearing impairment in EVA patients.