A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss

Area of Science:

• Genetics
• Otolaryngology
• Molecular Biology

Background:

• Hearing loss (HL) is a prevalent, genetically diverse sensory disorder affecting 1-3 per 1000 newborns.
• Genetic variants in GJB2, MT-RNR1, and SLC26A4 are primary causes of nonsyndromic hearing loss in the Chinese population.

Purpose of the Study:

• To develop and evaluate a rapid, multiplex genetic screening system for common hearing loss-associated genes.
• To determine the carrier rates of mutations in GJB2, MT-RNR1, and SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Main Methods:

• Development of the SNPscan assay, a high-throughput and cost-effective SNP genotyping method.
• Detection of 115 mutations across the GJB2, MT-RNR1, and SLC26A4 genes.

Main Results:

• The SNPscan assay successfully identified hereditary hearing loss in up to 50% of patients studied.
• Carrier rates for mutations were 26.21% for GJB2, 1.86% for MT-RNR1, and 25.46% for SLC26A4.

Conclusions:

• The SNPscan assay is an efficient tool for the genetic diagnosis of hearing loss.
• This molecular screening method has potential applications beyond hearing loss, for other inherited diseases.