UNIT 9.16 Molecular Diagnosis of Hearing Loss

  1. Kerry K. Brown1,2,
  2. Heidi L. Rehm1,3

Published Online: 1 JAN 2012

DOI: 10.1002/0471142905.hg0916s72

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Brown, K. K. and Rehm, H. L. 2012. Molecular Diagnosis of Hearing Loss. Current Protocols in Human Genetics. 72:9.16:9.16.1–9.16.16.

Author Information

  1. 1

    Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts

  2. 2

    Department of Genetics, Harvard Medical School, Boston, Massachusetts

  3. 3

    Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts

Publication History

  1. Published Online: 1 JAN 2012
  2. Published Print: JAN 2012


This unit discusses an approach to identifying a genetic etiology in an individual with nonsyndromic hearing loss. The unit begins with a discussion of the decision-making process that can be used to determine whether specific genes and/or a large gene panel should be used for molecular diagnosis of a patient presenting with nonsyndromic hearing loss. Next, two protocols are presented: (1) a full gene-sequencing assay to identify mutations in the GJB2 gene (encoding connexin 26), the most common cause of congenital hearing loss, and (2) an assay to detect the presence of the GJB6-D13S1830 deletion, a 342-kb deletion that causes hearing loss in homozygosity or in combination with a single GJB2 mutation. Finally, the unit ends with a strategy for determining the clinical significance of the test results, which can be challenging given the extensive genetic heterogeneity associated with hearing loss. Curr. Protoc. Hum. Genet. 72:9.16.1-9.16.16 © 2012 by John Wiley & Sons, Inc.


  • hearing loss;
  • deafness;
  • connexin 26;
  • GJB2;
  • connexin 30;
  • GJB6