Population genetics of connexin 26 deafness

ID: 765
School: TBD
Program: TBD
Status: Ongoing
Start date: January 2010
End Date: January 2030


The researchers aim to explore three explanations for the high genetic prevalence and mutational diversity of deafness-causing GJB2 mutations in the North American population, as well as the association of specific GJB2 mutations within ethnic groups. One possibility is mutation-selection equilibrium: novel GJB2 mutations are perhaps being introduced at the same rate that mutations in the gene pool are being eliminated. Evidence showing a mutational hotspot at GJB2, particularly for deletion mutations, would provide support for this hypothesis. A second explanation is linguistic homogamy, meaning in this case that culturally Deaf individuals have actively sought mates with compatible fluency in signed languages. This mate-selection phenomenon may have begun ~200 years ago with the introduction of signed language in residential schools for the Deaf. A third possibility is that of balancing selection. Unrelated to studying deafness, Tran van Nhieu, Clair et al. have shown in tissue culture experiments that Shigella flexneri requires GJB2 connexons for egression into the intestinal epithelia, raising the possibility that the three common GJB2 deletions could confer resistance to Shigella dysentery. This project studies all three of these hypotheses.

Principal investigators

Additional investigators

Priorities addressed

Funding sources

Approved Products


Braun, D. C. (2015, September). Population genetics of Cx26 deafness: Frequency, mutability, history and geography. Presented at the National Institute on Deafness and Other Communication Disorders Seminar, Bethesda, MD.

Braun, D. C., Craft, E. A., Herold, B. K., Arnos, K. S., Tekin, M., & Pandya, A. (2014, October). Does genetic hypermutability contribute to the prevalence of connexin 26 deafness? Poster presented at the meeting of the American Society for Human Genetics, San Diego, CA.

Jain, S., Epstein, E., & Braun, D. C. (2014, October). Linguistic homogamy explains the recent increase in phenotypic deafness, but does not predict an increase in frequency of deafness alleles. Poster presented at the Undergraduate Research Symposium in the Chemical and Biological Sciences, Baltimore, MD.

McBride, C., Chin, J., & Braun, D. C. (2014, October). Practical and inexpensive DNA fingerprinting for undergraduate science majors and high school students. Poster presented at the Undergraduate Research Symposium in the Chemical and Biological Sciences, Baltimore, MD.


Braun, D. C., Jain, S., Epstein, E., Greenwald, B.H., Herold, B., & Gray, M. Deaf intermarriage does not increase the prevalence of deafness alleles. bioRxiv 2020. doi: 10.1101/2020.04.09.034728