Related Experiment Video
Updated: Jun 27, 2026
Systematic Hearing Performance Evaluation Process for Adolescents with Cochlear Implantation at Early Ages
Published on: March 24, 2023
Genetic evaluation of American minority pediatric cochlear implant recipients
Tova C Fischer1, Joy Samanich, Bernice E Morrow
1Division of Pediatric Otorhinolaryngology-Head and Neck Surgery, Children's Hospital at Montefiore, Bronx, NY 10467, USA.
Insights
Genetic testing for Gap Junction Beta 2 (GJB2) mutations is rarely beneficial in pediatric cochlear implant recipients from minority admixture backgrounds. This study found a low incidence of GJB2 mutations in these diverse populations.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Pediatric cochlear implantation is a common treatment for severe to profound sensorineural hearing loss.
- Genetic factors play a significant role in non-syndromic sensorineural hearing loss.
- Minority populations, including those of Caribbean Hispanic and African American admixture, have unique genetic profiles.
Purpose of the Study:
- To evaluate the genetic etiology of hearing loss in pediatric cochlear implant recipients from American minority admixture backgrounds.
- To determine the prevalence of Gap Junction Beta 2 (GJB2) mutations in this specific population.
- To assess the clinical utility of GJB2 mutation analysis in these patients.
Main Methods:
- Retrospective case series review of pediatric cochlear implant recipients.
- Focus on patients of Caribbean Hispanic and African American admixture descent.
- Genetic testing for GJB2 mutations in cases with unclear etiology.
Main Results:
- Of 28 pediatric cochlear implant recipients, 14 were of Caribbean Hispanic or African American admixture.
- Six patients (43%) had environmental risk factors; eight (57%) had presumed genetic hearing loss.
- No biallelic GJB2 mutations were found in the admixture group; two patients had monoallelic GJB2 variants, one with environmental risk factors.
Conclusions:
- The incidence of GJB2 mutations is low in pediatric cochlear implant recipients of Caribbean Hispanic and African American admixture.
- GJB2 mutation analysis may have limited cost-benefit in this population with non-syndromic sensorineural hearing loss.
- Further genetic research is needed to identify other causative mutations in these diverse populations.
Objective:
To review the results of genetic evaluation of American minority pediatric cochlear implant recipients over a 5-year period.
Methods:
Case series review of pediatric cochlear implant recipients of Caribbean Hispanic and African American admixture descent with severe to profound sensorineural hearing loss at a tertiary care children's hospital.
Results:
Out of 28 patients receiving cochlear implants, 14 were of Caribbean Hispanic or African American admixture ancestry. Six (43%) had environmental risk factors for sensorineural hearing loss. Eight (57%) patients had presumed genetic sensorineural hearing loss; two of whom were syndromic and six non-syndromic. Patients with no clear etiology for hearing loss were tested for Gap Junction Beta 2 (GJB2) mutations. Within this admixture group, we found no biallelic mutations in GJB2, while two patients, both with environmental risk factors for sensorineural hearing loss, had monoallelic GJB2 variants. One patient of mixed ethnicity (Caribbean Hispanic, Turkish, Macedonian), not included as part of the 14, had the common Caucasian founder mutation, 35delG, along with a heterozygous polymorphism in the GJB2 gene. This extends previous data showing a paucity of GJB2 mutations in these admixture populations.
Conclusions:
We found no biallelic GJB2 mutations in our admixture cochlear implant population, and two sequence variants of the gene, only one of which was disease causing. This suggests that the incidence of GJB2 mutations in these admixture populations is low. Hence, there may be low cost-benefit of GJB2 mutation analysis in these admixture populations with severe to profound non-syndromic sensorineural hearing loss.
