gms | German Medical Science

GMS Current Posters in Otorhinolaryngology - Head and Neck Surgery

German Society of Oto-Rhino-Laryngology, Head and Neck Surgery (DGHNOKHC)

ISSN 1865-1038

Pou4f3 mutant mice show stereocilia fusion and gaint stereocilia in auditory hair cells

Poster Otologie

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  • Fang Wang - Southeast University, Nanjing, China

GMS Curr Posters Otorhinolaryngol Head Neck Surg 2012;8:Doc04

doi: 10.3205/cpo000657, urn:nbn:de:0183-cpo0006571

Published: April 19, 2012

© 2012 Wang.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.



Introduction: An 8–base pair deletion in the exon 2 of human POU4F3 gene (c.884del8) was identified in Family H, which resulted in a truncated protein, impaired high-affinity binding in a dominant negative fashion, leading to inherited progressive hearing loss(DFNA15).

Result: In this report, we generated heterozygous knockin mice by adding a mutant site containing a 8-bp deletion and a C-T interval in the end of exon 2 of Pou4f3 gene. The mutant mice displayed an elevation of auditory brianstem response (ABR) thresholds responsing to click and tones of different frequencies, especially high frequency, in the similar pattern of human’s cilinic phenotype. At the same stage, we also observed gaint stereocilia and stereocilia fusion in auditory hair cells by sanning electron microscopy.

Conclusion: Our results indicated that hearing loss in Family H was caused by appearance of gaint stereocilia and sterocilia fusion in auditory hair cells which impaired the transduction.