A Novel Homozygous Mutation in the EC1EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment
Joint Authors
Laszig, Roland
Aschendorff, Antje
Prera, Nicola
Birkenhäger, Ralf
Arndt, Susan
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-16
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
To date, about 165 genetic loci or genes have been identified which are associated with nonsyndromal hearing impairment.
In about half the cases, genetic defects in the GJB2 gene (connexin 26) are the most common cause of inner-ear deafness.
The genes GJB2 and GJB6 are localized on chromosome 13q11-12 in tandem orientation.
Connexins belong to the group of “gap junction” proteins, which form connexons, each consisting of six connexin molecules.
These are responsible for the exchange of ions and smaller molecules between neighboring cells.
Mutational analysis in genes GJB2 and GJB6 was brought by direct sequencing of the coding exons including the intron transitions.
Here we show in the participating extended family a homozygous mutation c.506G>A, (TGC>TAC) p.Cys169Tyr, in the GJB2 gene, which could be proven for the first time and led to nonsyndromal severe hearing impairment in the afflicted patients.
The mutation is located in the EC1/EC2 interaction complex of the gap junction connexon 26 complex and interrupts the K+ circulation and therefore the ion homeostasis in the inner ear.
The homozygous mutation p.Cys169Tyr identified here provides a novel insight into the structure-function relationship of the gap junction complex connexin/connexon 26.
American Psychological Association (APA)
Birkenhäger, Ralf& Prera, Nicola& Aschendorff, Antje& Laszig, Roland& Arndt, Susan. 2014. A Novel Homozygous Mutation in the EC1EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment. BioMed Research International،Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-462207
Modern Language Association (MLA)
Birkenhäger, Ralf…[et al.]. A Novel Homozygous Mutation in the EC1EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment. BioMed Research International No. 2014 (2014), pp.1-7.
https://search.emarefa.net/detail/BIM-462207
American Medical Association (AMA)
Birkenhäger, Ralf& Prera, Nicola& Aschendorff, Antje& Laszig, Roland& Arndt, Susan. A Novel Homozygous Mutation in the EC1EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-7.
https://search.emarefa.net/detail/BIM-462207
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-462207