1. A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report.
- Author
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Zhang Z, Chen QD, Zhao LP, Ma J, Zhang TS, Pang JX, Li YF, Wang MF, Wang AP, Tang L, Li LJ, He WJ, and Gu H
- Subjects
- Adult, Alleles, Amino Acid Substitution, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Female, Genotype, Hearing Tests, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Pedigree, Phenotype, Tomography, X-Ray Computed, Exome Sequencing, Deafness diagnosis, Deafness genetics, Genes, Dominant, Genetic Association Studies, Genetic Variation, Microphthalmia-Associated Transcription Factor genetics
- Abstract
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.
- Published
- 2018
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