Disease relevance of POU4F3

• Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans [1].

High impact information on POU4F3

• Linkage analysis placed this deafness locus, DFNA15, on chromosome 5q31 [1].
• We propose that the combination of defects caused by the mutation on the function of the POU4F3 transcription factor eventually leads to hair cell morbidity in affected family H members [2].
• POU4F3 is a member of the POU family of transcription factors and is essential for inner-ear hair cell maintenance [2].
• Because of the differences in auditory phenotype and the absence of pathogenic mutation in the coding region of POU4F3 it is likely that there is a second gene in 5q31, designated DFNA54, associated with NSHHI [3].
• In addition to Wolfram syndrome gene 1 (DFNA6/14/38) and diaphanous (DFNA1) there is evidence for a third gene involved in low-frequency hearing loss located at DFNA15 [3].

Other interactions of POU4F3

• By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed [4].

Analytical, diagnostic and therapeutic context of POU4F3

• To test the potential effects of the human POU4F3 mutation, we performed a series of experiments in cell culture to mimic the human mutation [2].

References