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
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.
Complete the form below and we will send an e-mail message containing a link to the selected article on your behalf