Mutation of the GJB2 gene, which encodes the connexin 26 (Cx26) gap junction (GJ) protein, is the most common cause of hereditary, sensorineural hearing loss. Cx26 is not expressed in hair cells, but is widely expressed throughout the non-sensory epithelial cells of the cochlea. Most GJB2 mutations produce non-syndromic deafness, but a subset produces syndromic deafness in which profound hearin...

BACKGROUND Deafness is the most common sensory disability in the world. Globally, mutations in GJB2 (connexin 26) have been shown to play a major role in non-syndromic deafness. Two other connexin genes, GJB6 (connexin 30) and GJA1 (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in black Africans. We aimed to validate the utility of testing for...

Accurate determination of the cause of hearing loss is critically important for clinicians for prognosis and management. Recognition of genetic syndromes is especially important, but this is dependent upon clear delineation of the characteristics of the syndromes. Research into underlying mechanisms of hearing loss is also much more effective if the cause of the hearing loss is known to be the ...

Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations. Therefore, cochlear CX26-gap junction plaque (GJP)-forming cells such as cochlear supporting cells are thought to be the most important therapeutic target for the ...

Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic loss. Here, we investigate the genetic etiology of deafness two GJB2 GJB6 negative patients presenting pre-lingual, progressive, severe Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing wa...

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OBJECTIVE The aim of this study was to determine the syndromic etiology of bilateral severe sensorineural hearing disorders in children and current etiological causes to reduce the cases in the unknown group. METHODS This study was conducted on 550 students of five schools for the deaf in Istanbul and Zonguldak, Turkey. Otologic, audiologic, dysmorphologic, ophthalmologic and dental examinati...

Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations ar...