The analysis of Cytogenetics microarray screening in patients with non-syndromic Enlarged Vestibular Aqueduct
ZHAO Jiandong
YUAN Yongyi
WANG Guojian
HUANG Shasha
DAI Pu
Abstract：Objective To investigate whether the copy number variations (CNVs) is one of pathogenic mechanism in patients with no-syndromic Enlarged Vestibular Aqueduct(n-EVA) in Chinese people. Methods CNVs microarray was ap-plied to screening 10 patients with non-syndromic EVA in which any of SLC26A4 gene mutations were not detected, and the result was compared with normal whole genome. Results The significant pathogenic copy number variation was not found in the 10 cases of patients without SLC26A4 gene mutations. Conclusion The copy number variation might not a pathogenic mechanism in non-syndromic EVA in Chinese people.
Keywords：Enlarged vestibular aqueduct syndromeCopy number variationsmicroarrayMutation
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 23-25 )