A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment
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Open Access
- 1 July 2005
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 42 (7) , 588-594
- https://doi.org/10.1136/jmg.2004.028324
Abstract
In many populations, up to 50% of all cases of ARNSHI are caused by mutations in the DFNB1 locus (MIM 220290) on 13q12.4 This locus contains the GJB2 gene (MIM 121011), encoding connexin-26 (Cx26),5 which belongs to a family of transmembrane proteins with about 20 members in humans. Hexamers of connexins (connexons) are displayed in the plasma membrane. Docking of connexons on the surfaces of two adjacent cells results in the formation of intercellular gap junction channels.6 Several different connexins, including Cx26, have been shown to participate in the complex gap junction networks of the cochlea.7, 8 It has been postulated that these networks play a key role in potassium homeostasis, which is essential for the sound transduction mechanism.9Keywords
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