The auditory phenotype of children harboring mutations in the prestin gene

Area of Science:

• Genetics
• Otolaryngology
• Molecular Biology

Background:

• The prestin gene (SLC26A5) is crucial for cochlear outer hair cell function and normal hearing.
• Previous reports documented limited prestin gene mutations associated with hearing loss.
• This study investigates novel prestin gene mutations in pediatric sensorineural hearing loss.

Observation:

• Two sisters with bilateral sensorineural hearing loss were identified as compound heterozygotes for two novel prestin gene mutations: c.209G>A (p.W70X) and c.390A>C (p.R130S).
• Hearing loss onset was congenital in the younger sister and pre-lingual (before age 6) in the elder sister.
• The younger sister presented with moderate, non-progressive hearing loss and a flat audiogram configuration.

Findings:

• The elder sister exhibited profound, slowly progressive hearing loss with elevated thresholds at middle and high frequencies.
• Auditory phenotypes included congenital or pre-lingual onset, moderate to profound severity, and slow progression or stability.
• Audiometric configurations varied, showing either flat patterns or prominent high-frequency hearing loss.

Implications:

• These findings expand the spectrum of prestin gene mutations linked to hereditary hearing loss.
• Characterizing these novel mutations aids in understanding genotype-phenotype correlations in prestin-associated auditory dysfunction.
• This research contributes to genetic diagnostics and counseling for families with sensorineural hearing loss.