A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report

Mol Med Rep. 2018 Apr;17(4):6054-6058. doi: 10.3892/mmr.2018.8627. Epub 2018 Feb 22.


Deafness and hearing loss may have functional, economic, social and emotional impacts on humans, including the ability of an individual to communicate with others, feelings of isolation and frustration, and health sector costs. The World Health Organization reported that there are 32 million children worldwide with hearing loss. In order to investigate genetic mutations in children of 26 nationalities with hearing loss in Yunnan, Sanger sequencing was employed to screen for mutations in four of the most common pathological genes, including gap junction protein β2 and 3, solute carrier family 26 member 4 and mitochondrial DNA. Whole exome sequencing was used to detect the mutation in the proband of a family in which these four genes were normal. Subsequently, the mutation was identified by Sanger sequencing. The present study reports a novel mutation, c.718C>G; p. (Arg240Gly) in the melanogenesis associated transcription factor gene, in Han people with hearing loss. The results of the present study may provide parents and children an accurate diagnosis, which may allow physicians to how to rehabilitate children's hearing.

Keywords: novel variant; melanogenesis associated transcription factor gene; hearing loss; children; Yunnan-Guizhou Plateau.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Deafness / diagnosis*
  • Deafness / genetics*
  • Exome Sequencing
  • Female
  • Genes, Dominant*
  • Genetic Association Studies*
  • Genetic Variation*
  • Genotype
  • Hearing Tests
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microphthalmia-Associated Transcription Factor / genetics*
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • Tomography, X-Ray Computed


  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor

Supplementary concepts

  • Nonsyndromic Deafness