Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene

Area of Science:

• Genetics
• Audiology
• Neurology

Background:

• Auditory neuropathy spectrum disorder (ANSD) involves dyssynchronous auditory nerve conduction.
• Mutations in the Connexin 26 (GJB2) gene are a frequent cause of genetic deafness.
• Limited research exists on the association between ANSD and GJB2 gene mutations.

Purpose of the Study:

• To investigate the clinical relationship between auditory neuropathy spectrum disorder (ANSD) and GJB2 gene mutations.
• To analyze the prevalence of GJB2 gene mutations in patients diagnosed with ANSD.

Main Methods:

• Retrospective analysis of clinical data and genetic evaluation.
• Study included 40 patients diagnosed with ANSD at a tertiary referral center.
• GJB2 gene analysis was performed on all participants.

Main Results:

• GJB2 gene mutations were identified in 7.5% of the studied ANSD patients.
• Biallelic mutations (c.35delG) were found in three patients.
• A splice site mutation (IVS1+1G>A) was found in one patient, but its correlation could not be confirmed due to the absence of a second mutant allele.

Conclusions:

• GJB2 gene mutations were present in a subset of patients with ANSD.
• The study found no statistically significant relationship between clinical auditory neuropathy spectrum disorder and GJB2 gene mutations (p>0.05).
• Further research may be needed to fully elucidate the genetic underpinnings of ANSD.