Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating

PLoS One. 2014 Oct 7;9(10):e109178. doi: 10.1371/journal.pone.0109178. eCollection 2014.

Abstract

Inherited deafness has been shown to have high genetic heterogeneity. For many decades, linkage analysis and candidate gene approaches have been the main tools to elucidate the genetics of hearing loss. However, this associated study design is costly, time-consuming, and unsuitable for small families. This is mainly due to the inadequate numbers of available affected individuals, locus heterogeneity, and assortative mating. Exome sequencing has now become technically feasible and a cost-effective method for detection of disease variants underlying Mendelian disorders due to the recent advances in next-generation sequencing (NGS) technologies. In the present study, we have combined both the Deafness Gene Mutation Detection Array and exome sequencing to identify deafness causative variants in a large Chinese composite family with deaf by deaf mating. The simultaneous screening of the 9 common deafness mutations using the allele-specific PCR based universal array, resulted in the identification of the 1555A>G in the mitochondrial DNA (mtDNA) 12S rRNA in affected individuals in one branch of the family. We then subjected the mutation-negative cases to exome sequencing and identified novel causative variants in the MYH14 and WFS1 genes. This report confirms the effective use of a NGS technique to detect pathogenic mutations in affected individuals who were not candidates for classical genetic studies.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alleles
  • Amino Acid Sequence
  • Asian People
  • China
  • Conserved Sequence
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Exome*
  • Female
  • Genetic Heterogeneity*
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / chemistry
  • Membrane Proteins / genetics
  • Molecular Sequence Data
  • Mutation
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics
  • Myosin Type II / chemistry
  • Myosin Type II / genetics
  • Pedigree
  • RNA, Ribosomal
  • Sequence Alignment
  • Tomography, X-Ray Computed

Substances

  • DNA, Mitochondrial
  • MYH14 protein, human
  • Membrane Proteins
  • RNA, Ribosomal
  • RNA, ribosomal, 12S
  • wolframin protein
  • Myosin Type II
  • Myosin Heavy Chains