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Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Physiological genomics - 6 Nov 2009

Lee Hee Keun, Song Mee Hyun, Kang Myengmo, Lee Jung Tae, Kong Kyoung-Ah, Choi Su-Jin, Lee Kyu Yup, Venselaar Hanka, Vriend Gert, Lee Won-Sang, Park Hong-Joon, Kwon Taeg Kyu, Bok Jinwoong, Kim Un-Kyung

Abstract excerpt

X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations in the POU3F4 locus, which encodes a member of the POU family of transcription factors. Despite numerous reports on clinical evaluations and genetic analyses describing novel POU3F4 mutations, little is known about how such mutations affect normal functions of the POU3F4 protein and cause inner ear...

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PMID: 19671658
DOI: 10.1152/physiolgenomics.00100.2009

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