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

Rosemary I. Kabahuma, Xiaomei Ouyang, Li Lin Du, Denise Yan, Tim Hutchin, Michele Ramsay, Claire Penn, Xue Zhong Liu

Research output: Contribution to journalArticle

33 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)611-617
Number of pages7
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume75
Issue number5
DOIs
StatePublished - May 2011

Keywords

  • GJB2
  • GJB6-D13S1830
  • Molecular diagnosis
  • MtDNA mutations
  • Non-syndromic hearing loss
  • South African population

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

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