Abstract GJB2 (encoding connexin26, Cx26) mutation is the most common genetic cause of hereditary deafness. Cochlear sensory hair cell (HC) death core pathologic phenomenon ‐related However, mechanism‐based therapy still obscure. A targeted‐cell conditional Gjb2 knockout mouse model was established in which Cx26 Deiters cells and pillar were knocked out at birth. We explored mechanism HC caused...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of deaf probands from six unrelated Chinese families. After excluding pathogenic/likely pathogenic in most common genes, GJB2 and SLC26A4, 12 prelingual deafness autosomal recessive inherita...

Hearing impairment is the most common sensory disorder, with congenital hearing impairment present in approximately 1 in 1,000 newborns1. Hereditary deafness is often mediated by the improper development or degeneration of cochlear hair cells2. Until now, it was not known whether such congenital failures could be mitigated by therapeutic intervention3–5. Here we show that hearing and vestibular...

hearing loss (hl) is the most common communication disorder affecting about 1/1000 births worldwide caused by environmental or genetic factors. about 30-50% is attributed to genetic factors and till now more than 85 genes have been implicated in non-syndromic hl. in iran, hl is second to intellectual disability as the most common disability, affecting 1 of every 166 persons. about 15 years ago ...

Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For many ethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not comp...