Genetics of Hearing Loss: Syndromic

Otolaryngol Clin North Am. 2015 Dec;48(6):1041-61. doi: 10.1016/j.otc.2015.07.007. Epub 2015 Oct 9.

Abstract

Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.

Keywords: Deafness; Genetics; Genome; Hearing loss; Sequencing.

Publication types

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

MeSH terms

  • Biomarkers / analysis*
  • Child
  • Early Diagnosis*
  • Genetic Linkage
  • Goiter, Nodular / diagnosis
  • Goiter, Nodular / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • Usher Syndromes / diagnosis
  • Usher Syndromes / genetics*
  • Waardenburg Syndrome / diagnosis
  • Waardenburg Syndrome / genetics*

Substances

  • Biomarkers

Supplementary concepts

  • Pendred syndrome