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Etiologies of Early-Onset Hearing Impairment in Rwanda
Esther Uwibambe1,2, Leon Mutesa1, Charles Muhizi3
1Center for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda.
Genes
|March 28, 2025
Summary
Early-onset hearing impairment (HI) in Rwanda is often diagnosed late and primarily caused by meningitis or unknown factors. Genetic testing for common variants like GJB2 did not reveal a cause in this study.
Area of Science:
- Genetics
- Audiology
- Public Health
Background:
- Over 75% of individuals with hearing impairment (HI) reside in low- and middle-income countries, yet Rwanda lacks specific data on HI etiology.
- Early-onset HI, defined as occurring before age 7, presents a significant challenge in regions with limited healthcare resources.
- Understanding the causes of HI is crucial for developing targeted prevention and intervention strategies.
Purpose of the Study:
- To determine the etiology of early-onset hearing impairment in Rwanda using a community-based, nationwide approach.
- To investigate potential genetic and environmental factors contributing to hearing loss in Rwandan children.
- To identify common genetic variants associated with hearing impairment in the Rwandan population.
Main Methods:
- Nationwide recruitment of participants with early-onset HI from schools, a university hospital, and communities.
- Clinical examination and audiological assessments including pure tone audiometry and auditory brainstem response.
- Genetic analysis involving Sanger sequencing of the GJB2 gene and multiplex PCR for the GJB6-D3S1830 deletion.
Main Results:
- Out of 422 individuals with early-onset HI, 21.18% were linked to meningitis, and 51.23% had unknown etiology.
- Among 82 families with suspected genetic causes, 46.3% showed autosomal recessive inheritance patterns, with nonsyndromic HI being most common (94.2%).
- No pathogenic variants in GJB2 or the GJB6-D3S1830 deletion were identified in the tested participants or controls.
Conclusions:
- Hearing impairment in Rwanda is diagnosed late (mean age 4.3 years), with meningitis and unknown origins being the predominant causes.
- While genetic factors are suspected in a significant portion of cases, common mutations in GJB2 and GJB6 were not found.
- Neonatal hearing screening and enhanced immunization programs are recommended to reduce the burden of acquired HI; further genomic studies are needed.
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