How Genetic Mutations Affect Hearing and Its Progression

Genetics can most definitely affect your hearing, and yes, it’s complicated.  Buckle in for some complicated language and insight into these genetic abnormalities. Understanding the impact of GJB2 (connexin 26) mutations on hearing is crucial for managing sensorineural hearing loss (SNHL) in children. A study, co-authored by Dr. Brian Fligor and a team of researchers, provides valuable insights into how these genetic mutations affect hearing and its progression.

This study aimed to document the audiologic phenotype of children with biallelic GJB2 mutations and to correlate these findings with specific genetic variants. Conducted at a children’s hospital, the research involved sequencing the GJB2 gene in 126 children diagnosed with SNHL.

The study found 30 distinct GJB2 mutations, with 43% being truncating and 57% non-truncating. Among the patients, 84 (67%) initially had measurable hearing in the mild to severe range across various frequencies. However, 56% of these patients experienced some degree of progressive hearing loss, indicating that GJB2 mutations often lead to gradual but occasionally rapid hearing deterioration.

For more details, read the entire study HERE: https://pubmed.ncbi.nlm.nih.gov/20083784/

Prioritizing your children’s hearing health is as simple as contacting your local hearing experts at Tobias & Battite to schedule an appointment today!