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Byung Yoon Choi, Do-Hwan Kim, Taesu Chung, Mi Chang, Eun-Hye Kim, Ah Reum Kim, Jungirl Seok, Sun O Chang, Jinwoong Bok, Dongsup Kim, Seung-Ha Oh and Woong-Yang Park Destabilization and Mislocalization of POU3F4 by C-Terminal Frameshift Truncation and Extension Mutation Human Mutation 34

Article first published online: 17 OCT 2012 | DOI: 10.1002/humu.22232

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A majority of X-linked non-syndromic hearing loss is caused by various types of mutations of the POU3F4 gene, as seen in DFNX2. We identified unique C-terminal frameshift truncation and extension mutations in Korean DFNX2 patients, which caused functional deterioration by reducing protein stability and mislocalization within the cell. In this study, we propose a molecular mechanism of frameshift extension mutations, which could be used to develop therapeutics for various Mendelian disorders.

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