Whole-exome sequencing and its impact in hereditary hearing loss

Genet Res (Camb). 2015 Mar 31:97:e4. doi: 10.1017/S001667231500004X.

Abstract

Next-generation sequencing (NGS) technologies have played a central role in the genetic revolution. These technologies, especially whole-exome sequencing, have become the primary tool of geneticists to identify the causative DNA variants in Mendelian disorders, including hereditary deafness. Current research estimates that 1% of all human genes have a function in hearing. To date, mutations in over 80 genes have been reported to cause nonsyndromic hearing loss (NSHL). Strikingly, more than a quarter of all known genes related to NSHL were discovered in the past 5 years via NGS technologies. In this article, we review recent developments in the usage of NGS for hereditary deafness, with an emphasis on whole-exome sequencing.

Publication types

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

MeSH terms

  • Deafness / diagnosis
  • Deafness / genetics
  • Exome / genetics*
  • Genetic Predisposition to Disease / genetics
  • Hearing Loss / diagnosis*
  • Hearing Loss / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Reproducibility of Results
  • Sensitivity and Specificity

Supplementary concepts

  • Nonsyndromic Deafness