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Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.

Buniello A., Ingham N.J., Lewis M.A., Huma A.C., Martinez-Vega R., Varela-Nieto I., Vizcay-Barrena G., Fleck R.A., Houston O., Bardhan T., Johnson S.L., White J.K., Yuan H., Marcotti W., Steel K.P.

WBP2 encodes the WW domain-binding protein 2 that acts as a transcriptional coactivator for estrogen receptor α (ESR1) and progesterone receptor (PGR). We reported that the loss of Wbp2 expression leads to progressive high-frequency hearing loss in mouse, as well as in two deaf children, each carrying two different variants in the WBP2 gene. The earliest abnormality we detect in Wbp2-deficient mice is a primary defect at inner hair cell afferent synapses. This study defines a new gene involved in the molecular pathway linking hearing impairment to hormonal signalling and provides new therapeutic targets.

EMBO Mol. Med. 8:191-207(2016) [PubMed] [Europe PMC]

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