ISSN 1612-3352

Editors in Chief

Prof. Dr. Claus F. Claussen, Neurootological Research Institute of the Research Society for Smell, Taste, Hearing and Equilibrium Disorders at Bad Kissingen (4-G-F). Bad Kissingen, Germany.
Dr. med. Julia M. Bergmann,
Dr. med. Guillermo O. Bertora,
Otoneuroophthalmological Neurophysiology,
Buenos Aires, Argentina.

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Dr. med. Julia M. Bergmann,
Dr. med. Guillermo O. Bertora,
Otoneuroophthalmological Neurophysiology,
Buenos Aires, Argentina.


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Mutation frequency of connexin 26 gene: preliminary study of a sardinian deaf group

Abstract

Sensorineural prelingual deafness is a major impairment because of its consequence on psychosocial and cognitive development: its early onset, in fact, prevents a normal oral language acquisition. 60% of prelingual hearing loss has a genetic origin, and its major mode of inheritance is autosomal recessive (85% of cases).
In addition, prelingual deafness is well known to be genetically, highly heterogeneous: only 30% of the cases are syndromic (SHI), while 70% are not linked to other signs or symptoms (NSHI).
To date, many loci linked to NSHI have been identified: 30 loci linked to autosomal recessive forms (DFNB), 40 loci linked to autosomal dominant hearing loss (DFNA), and 8 loci linked to X-linked forms (DFN).
Up to 50% of all cases of prelingual recessive deafness are linked to the DFNB1 locus and it is shown to arise from mutations in the Connexin26 gene (Cx26 gene, also called GJB2), which encodes gap junction protein Connexin26.
In the inner ear, Cx26 is localized in the supporting cells within the organ of the Corti, and in the fibrocytes of both the spiral limbus and the spiral ligament. It has been postulated that on auditory stimulation, the K+ , which eters into hair cells, is released and recycled via the connexin26 channels. Hair cell K+ is thought to be recaptured by supporting cells and transferred via fibrocytes to the interdental cells of the spiral limbus or to the marginal cells of the stria vascularis, whereupon it re-enters the endolymph. Any mutation of this gene could, therefore, cause a disruption of the K+ recycling, resulting in deafness. The hearing loss in these patients has usually been described as severe or profound.

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