Pathogenic analysis of a novel mutation of deafness gene SLC26A4
GAO Xue
XIN Feng
YUAN Huijun
DAI Pu
Abstract：Objective To analyze the pathogenesis of a novel mutation SLC26A4 ivs16+10C>T detected in a Chinese family (No.7518), and provide the basic information for the molecular diagnosis of genetic hearing loss. Methods Blood sam-ple and clinical data of family 7518, 200 sporadic EVAS (enlarge vestibular aqueduct syndrome) cases and 200 normal con-trol were collected. By splice site prediction and RT-PCR, we analyze the pathogenesis of SLC26A4 ivs16+10C>T. Results According to Fruitfly, a change in the splice donor sequence from C to T in intron 16 of SLC26A4, is predicted to make no change in splice site recognition. RT-PCR results showed this mutation does not influence the length of mRNA. In addition, we identified SLC26A4 ivs16+10C>T is rare in Chinese population. This mutation were absent in the 200 sporadic patients and 200 ethnicity-matched controls. Conclusion Our results demonstrated that SLC26A4 ivs16+10C>T is not likely to be a pathogenic mutation. And their offspring will not replicate parents’hearing.
Keywords：SLC26A4ivs16+10C>TPathogenesisEVAS
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：4( 26-29 )