1 research outputs found
Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing
WBP2 encodes the WW domain-binding protein 2 that acts as a
transcriptional coactivator for estrogen receptor a (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