Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

Int J Pediatr Otorhinolaryngol. 2011 May;75(5):611-7. doi: 10.1016/j.ijporl.2011.01.029. Epub 2011 Mar 9.

Abstract

Objective: The purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population.

Methods: Using single-strand conformation polymorphism and direct sequencing for screening GJB2 mutation; Multiplex PCR Amplification for GJB6-D13S1830 deletion and Restriction Fragment-Length Polymorphism (PCR-RFLP) analysis for the four common mtDNA mutations. We screened 182 hearing impaired students to determine the frequency of these mutations in the population.

Results: None of the reported disease causing mutations in GJB2 nor any novel pathogenic mutations in the coding region were detected, in contrast to the findings among Caucasians. The GJB6-D13S1830 deletion and the mitochondrial mutations were not observed in this group.

Conclusion: These results suggest that GJB2 may not be a significant deafness gene among sub-Saharan Africans, pointing to other unidentified genes as responsible for nonsyndromic hearing loss in these populations.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Africa South of the Sahara / epidemiology
  • Audiometry
  • Black People / genetics
  • Child
  • Child, Preschool
  • Cohort Studies
  • Connexin 26
  • Connexins / genetics*
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Genetic Predisposition to Disease / epidemiology*
  • Hearing Loss / epidemiology
  • Hearing Loss / genetics*
  • Hearing Loss / physiopathology
  • Hearing Loss, Sensorineural / epidemiology
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology
  • Hearing Tests
  • Humans
  • Incidence
  • Male
  • Mass Screening
  • Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Risk Assessment
  • Severity of Illness Index
  • Young Adult

Substances

  • Connexins
  • DNA, Mitochondrial
  • GJB2 protein, human
  • Connexin 26