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Genetic Testing for Hearing Loss

by Mary Beth Nierengarten • August 16, 2017

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Data Sources. 230 primary studies identified from Pubmed.

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Explore This Issue
August 2017

Review Methods. PubMed was searched systematically to screen broadly for any study reporting on genotype and carrier frequencies for biallelic GJB2-associated hearing loss in defined populations around the world. Genotype and audiometric data were extracted and subjected to meta-analysis to determine genotype distributions, carrier frequencies, rates of asymmetric or progressive hearing loss, and imaging abnormalities.

Results. A total of 216 articles comprising over 43,000 hearing-loss probands were included. The prevalence of biallelic GJB2-associated hearing loss was consistent across most of the 63 countries examined, with different mutations being predominant in different countries. Common mutations were found in greater than 3% of the general population worldwide. Meta-analysis of 48 case-control studies demonstrated a two-fold higher carrier frequency among hearing-impaired individuals compared to normal-hearing controls for truncating alleles, but not V37I. Progression, asymmetry, and imaging abnormalities were present in 14% to 19% of individuals with GJB2-associated hearing loss.

Conclusion. GJB2 mutations are highly prevalent around the world. The multiple predominant mutations present in different populations attest to the importance of this gene for normal cochlear function and suggests an evolutionary heterozygote advantage.

The unusually high carrier rate for truncating mutations among hearing-impaired individuals is consistent with either the presence of complementary mutations or a carrier phenotype. The significant rate of asymmetry and progression highlights the importance of diagnostic workup and close follow-up for this highly variable condition. (Laryngoscope, 2014;124:E34–E53).

Pages: 1 2 3 4 5 6 | Single Page

Filed Under: Home Slider, Special Report Tagged With: diagnosis, genetic testing, hearing loss, hearing screening, treatmentIssue: August 2017

You Might Also Like:

  • Otolaryngology Research Increasingly Supports Genetic Screening to Evaluate Pediatric Hearing Loss
  • Early Cytomegalovirus Testing Can Detect Sensorineural Hearing Loss in Very Young Children
  • What Is the Optimal Workup for a Child with Bilateral Sensorineural Hearing Loss?
  • Newly Identified Gene May Be Linked to Progressive Sensorineural Hearing Loss

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