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Article

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

International journal of pediatric otorhinolaryngology - 1 Dec 2015

Pang Xiuhong, Chai Yongchuan, He Longxia, Chen Penghui, Wang Xiaowen, Li Lei, Jia Huan, Wu Hao, Yang Tao

Abstract excerpt

OBJECTIVES: 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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26549381
DOI: 10.1016/j.ijporl.2015.10.015

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