BMC Medical Genomics· 2026Q2
GJB2 and GJB6 pathogenic variants prevalence and variants distribution in non-syndromic hearing loss in African population: a systematic review and meta-analysis
- 0citations
- Q2SCImago
- 2026year
Short summary
A meta-analysis of 17 studies (2001-2025) found a 7% prevalence of GJB2 pathogenic variants in African individuals with non-syndromic hearing loss (NSHL), with GJB6 variants largely absent and higher contributions noted in West Africa.
AI-generated from the title and abstract; the full text is not read.
Key points
- Pooled prevalence of GJB2 pathogenic variants in African NSHL is 7% (95% CI: 2.2–11.1).
- GJB6 pathogenic variants were largely absent in the reviewed African populations.
- Prevalence of GJB2 variants varied significantly across African countries, with higher contributions in West Africa.
- 17 studies published between 2001 and 2025 met inclusion criteria, spanning multiple African nations.
AI-generated from the title and abstract; the full text is not read.
Abstract
Hearing loss affects over 1.5 billion people worldwide, with around 430 million experiencing disabling loss. Non-syndromic cases often involve GJB2 and GJB6 pathogenic variants, yet their prevalence in Africans is unclear. This review synthesizes evidence on pathogenic variant prevalence and distribution among populations with NSHL. A systematic search was conducted across PubMed/MEDLINE, Google Scholar, DOAJ, AJOL, and the Cochrane Library to identify primary studies reporting GJB2 and GJB6 variants in African populations with NSHL, published from 2000. Inclusion criteria encompassed studies that focused on GJB2 and GJB6 pathogenic variant in individuals with NSHL. Data from eligible studies were extracted, analysed and synthesized to allow comparison across countries. A total of 716 records were identified from databases and grey literature, with 17 studies meeting inclusion criteria, published between 2001 and 2025. Research spanned several African countries, notably Cameroon, South Africa, Senegal, and Ghana. The prevalence of GJB2 and GJB6 pathogenic variants varied widely across populations. Pooled analysis estimated a 7% prevalence of GJB2 pathogenic variants among individuals with non-syndromic hearing loss (95% CI: 2.2–11.1; p = 0.004). GJB6 pathogenic variants were largely absent, except for two suspected pathogenic variants reported in one study. Higher contributions occurred in West Africa, while East and other regions showed minimal or no pathogenic variants. While GJB2 and GJB6 remain major genetic contributors to NSHL globally, their role in African populations is variable, underscoring the need for further research to identify additional genetic factors underlying NSHL and to develop population-specific molecular diagnostic strategies across diverse African populations.
The authors' abstract, as published at the source. BMC Medical Genomics, 2026 · DOI ↗
Continue with a free account
Ask the paper: 3 free questions a day about this paper; save it, get its citation, new summaries every day for your field. Takeaways are Premium.
Continue free on the webSign in with Google or Apple; no card needed. You come back to this paper.
On your phone:
Field: Sensory Systems
Sensory SystemsNeuroscience