Genetics of Hearing Loss--Nonsyndromic

Otolaryngol Clin North Am. 2015 Dec;48(6):1063-72. doi: 10.1016/j.otc.2015.06.005. Epub 2015 Aug 11.

Abstract

Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL. High-throughput sequencing techniques, also called next-generation sequencing (NGS) or massively parallel sequencing (MPS), may allow for routine definitive diagnosis of all possible genetic causes for hearing loss in the not-too-distant future.

Keywords: DFNA; DFNB; GJB2; Massively parallel sequencing; Next-generation sequencing; Nonsyndromic hearing loss.

Publication types

  • Review

MeSH terms

  • Connexin 26
  • Connexins / genetics
  • Genetic Linkage
  • Hearing Loss / congenital*
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Membrane Transport Proteins / genetics
  • Sulfate Transporters

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Connexin 26