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. 2004 Jun;41(6):401–406. doi: 10.1136/jmg.2003.015073

DFNA5: hearing impairment exon instead of hearing impairment gene?

L Van Laer 1, K Vrijens 1, S Thys 1, V F I Van Tendeloo 1, R Smith 1, D R Van Bockstaele 1, J Timmermans 1, G Van Camp 1
PMCID: PMC1735793  PMID: 15173223

Abstract

Methods: We performed transfection experiments in mammalian cell lines (HEK293T and COS-1) with green fluorescent protein (GFP) tagged wildtype and mutant DFNA5 and analysed cell death with flow cytometry and fluorescence microscopy.

Results: Post-transfection death of HEK293T cells approximately doubled when cells were transfected with mutant DFNA5–GFP compared with wildtype DFNA5–GFP. Cell death was attributed to necrotic events and not to apoptotic events.

Conclusion: The transfection experiments in mammalian cell lines support our hypothesis that the hearing impairment associated with DFNA5 is caused by a "gain of function" mutation and that mutant DFNA5 has a deleterious new function.

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Selected References

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