A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct

Int J Pediatr Otorhinolaryngol. 2018 Apr:107:97-100. doi: 10.1016/j.ijporl.2018.01.037. Epub 2018 Jan 31.


Objectives: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome.

Methods: Multiplex PCR technology combined with Ion Torrentâ„¢ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously studied were included as a control.

Results: The proband and his little sister suffered from typical features of sensorineural hearing loss with enlarged vestibular aqueduct (EVA). Both subjects harbored two compound heterozygous mutations in the SLC26A4 gene. A novel mutation named c.2110 G > C (p.Glu704Gln) in exon 19 and another previously reported mutation c.1673 A > T (p.Asn558Ile) were identified. These mutations were carried in the heterozygous state by the parents and therefore co-segregated with the genetic disease. The c.2110 G > C (p.Glu704Gln) mutation was absent in 1500 healthy newborns. Protein alignment indicated high evolutionary conservation of the p.E704 residue, and this mutation was predicted by online tools to be damaging and deleterious.

Conclusion: This study demonstrates that the novel mutation c.2110 G > C (p.Glu704Gln) in compound heterozygosity with c.1673 A > T (p.Asn558Ile) in the SLC26A4 gene corresponds to the EVA in this family. Our study will provide a foundation for elucidating the SLC26A4-related mechanisms of hearing loss.

Keywords: Enlarged vestibular aqueduct; Hearing loss; Novel mutation; SLC26A4.

MeSH terms

  • Asian People / genetics
  • Child
  • Deafness / complications
  • Deafness / genetics*
  • Female
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Transport Proteins / genetics*
  • Multiplex Polymerase Chain Reaction
  • Mutation
  • Pedigree
  • Sulfate Transporters
  • Tomography, X-Ray Computed
  • Vestibular Aqueduct / abnormalities*


  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters

Supplementary concepts

  • Deafness, Autosomal Recessive 4
  • Nonsyndromic Deafness