Newly Identified Gene May Be Linked to Progressive Sensorineural Hearing Loss

Researchers have identified a new gene that may be associated with causing sensorineural hearing loss (SNHL) in childhood, according to a recent study published in JAMA Otolaryngology – Head and Neck Surgery. The discovery reveals a potentially new mechanism of hearing loss that could advance the development of future therapies.

The study investigators analyzed a six-generation family of 19 individuals who reported childhood SNHL and identified a mutation in a specific gene, TMTC2, that likely caused the SNHL in this family. Nine of the family members had documented hearing loss characterized by bilateral, symmetric, progressive SNHL that resulted in severe to profound hearing loss in childhood.

An additional analysis of 179 unrelated adult individuals with SNHL and 186 adult individuals reporting ‘non-deafness’ revealed that approximately 4% of patients with SNHL also carry this newly identified mutation.

“Early identification of hearing loss in children is critical to their speech, language, and educational development,” said Christina Runge, PhD, associate professor and chief in the department of otolaryngology and communication sciences at the Medical College of Wisconsin in Milwaukee and lead author of the study. “Early testing for TMTC2 and other genetic causes of progressive hearing loss can help to catch those children at risk for developing hearing loss.”

“This information,” she concluded, “alerts parents and health care providers to closely monitor the child to detect any hearing loss as early as possible.”

The research was funded by the National Institute on Deafness and Other Communication Disorders.