Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies.
Level 4 - case-series / case-control
Case series of pediatric patients without a control group.
PubMed 39062005 · doi:10.3390/biomedicines12071427
What was done
Clinical and audiometric data were collected from six pediatric patients with hearing loss who underwent low-cost clinical genetic panel testing to evaluate causative variants and phenotypic presentations.
What was found
Known pathogenic variants in MYO15A, GJB2, and USH2A were identified as likely causal. Novel pathogenic variants were also detected in MYO7A and TECTA. Variable hearing phenotypes and inheritance patterns were observed across the patients. No specific quantitative audiometric data or numerical proportions were provided in the abstract.
Why it matters
Illustrates the clinical diagnostic utility of genetic panel testing in identifying both established and novel genetic etiologies for pediatric hearing loss to inform counseling.
Limits
The sample size is tiny (n = 6), purely descriptive, and lacks a comparison group. No quantitative audiometric thresholds or functional confirmations of the novel variants are reported in the abstract.
Cited by
- supports More than 200 distinct genes have been identified as causes of human hearing loss.