Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China

Ear Nose Throat J. 2018 Jun;97(6):E33-E38. doi: 10.1177/014556131809700603.

Abstract

Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 children-56 boys and 47 girls, aged 5 months to 9 years (mean: 4.1 yr)-with SNHL who underwent genetic screening for 20 hot-spot mutations of the GJB2, SLC26A4, GJB3, and MT-RNR1 genes. Mutations were detected by multiple-PCR-based MALDI-TOF MS assay. At least one mutated allele was detected in 48 patients (46.6%), and 30 patients (29.1%) carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G, with allele frequencies of 23.8 and 6.8%, respectively. At least one mutant allele of SLC26A4 was detected in the 13 patients who had an enlarged vestibular aqueduct (EVA). Almost half of the children with SNHL carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. The mutations in SLC26A4 were prevalent and correlated strongly with EVA.

MeSH terms

  • Alleles
  • Asian People / genetics
  • Child
  • Child, Preschool
  • China
  • Connexin 26
  • Connexins / genetics*
  • Female
  • Gene Frequency
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Male
  • Membrane Transport Proteins / genetics*
  • Mitochondrial Ribosomes
  • Mutation
  • Orphan Nuclear Receptors / genetics*
  • RNA, Ribosomal / genetics*
  • Sulfate Transporters

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Transport Proteins
  • NR2E3 protein, human
  • Orphan Nuclear Receptors
  • RNA, Ribosomal
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26
  • GJB3 protein, human