A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

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• 作者：Xiuhong Pang^a ; ^b ; ^c ; ^d ; ¹ ; Yongchuan Chai^e ; ^b ; ¹ ; Longxia He^b ; ^c ; ^d ; Penghui Chen^b ; ^c ; ^d ; Xiaowen Wang^b ; ^c ; ^d ; Lei Li^b ; ^c ; ^d ; Huan Jia^b ; ^c ; ^d ; Hao Wu^b ; ^c ; ^d ; ^{wuhao622@sina.cn" class="auth_mail" title="E-mail the corresponding author} ; Tao Yang^b ; ^c ; ^d ; ^{yangtfxl@sina.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：SLC26A4 ; Genomic deletion ; Non-syndromic hearing loss ; Enlarged vestibular aqueduct
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：79
• 期：12
• 页码：2248-2252
• 全文大小：1100 K

文摘

To investigate the genetic cause of the patients with non-syndromic enlarged vestibular aqueduct (EVA) but without bi-allelic SLC26A4 mutations.

Methods

Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. The breakpoints of the deletion were fine-mapped and revealed by PCR amplification and sequencing. This deletion was subsequently screened in 22 Chinese Han EVA probands with mono-allelic SLC26A4 mutations. The possible founder effect of the newly identified genomic deletion was evaluated by haplotype analysis.

Results

A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands with mono-allelic SLC26A4 mutations. Haplotype analysis showed that this genomic deletion is likely a founder mutation in Chinese Hans.

Conclusion

Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively frequent in Chinese Han non-syndromic EVA patients without bi-allelic SLC26A4 mutations. Screening of this genomic deletion should be incorporated into the routine DNA testing of SLC26A4 in Chinese Hans.