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Monogenetic Diseases

Sensorineural Deafness

CONNEXIN 26 MUTATIONS ASSOCIATED WITH RECESSIVE NON SYNDROMIC SENSORINEURAL DEAFNESS IN SUB-SAHARAN AFRICAN PATIENTS

Masters Student: Jason Bosch

 There is very little research on non-syndromic sensorineural hearing loss in African populations. Studies elsewhere have shown that mutations leading to hearing loss are population specific.

Aims:

  1. To clarify the pattern of GJB2 mutations in a selected sample of African patients, from both South Africa and Cameroon, with non-syndromic, sensorineural hearing loss.
  2. To explore mutations in GJA1/Connexin 43 and GJB6/Connexin 30.
  3. To explore mutations in mitochondrial genes.