Molecular diagnosis of hearing loss

Current Protocols in Human Genetics
Heidi L Rehm

Abstract

This unit discusses an approach to identifying a genetic cause in an individual with nonsyndromic hearing loss. Two protocols are presented, including a full-gene sequencing assay to identify mutations in the GJB2 gene encoding the connexin 26 protein. Mutations in the GJB2 gene represent the most common cause of congenital hearing loss. In addition, a protocol to detect the presence of a 342-kb deletion that includes a portion of the GJB6 gene is presented. The GJB6-D13S1830 deletion, in homozygosity or in combination with a single GJB2 mutation, causes hearing loss. In addition to the two protocols presented, the Strategic Planning section presents a discussion of a decision-making process that can be used to begin determining which gene(s) to test for in a patient presenting with nonsyndromic hearing loss. This task can be quite challenging, with the suspected involvement of over 90 genes.

References

Oct 23, 1997·Human Molecular Genetics·F DenoyelleC Petit
Jan 9, 1998·Nature·D A ScottR J Smith
Jun 10, 1998·Nature·F DenoyelleC Petit
Aug 26, 1998·Nature·T W WhiteD L Paul
Jun 22, 1999·JAMA : the Journal of the American Medical Association·G E GreenR J Smith
Apr 27, 2000·Clinical Genetics·A PampanosM B Petersen
Jul 13, 2000·British Journal of Audiology·E OrzanA Murgia
Sep 9, 2000·JAMA : the Journal of the American Medical Association·M Males
Sep 9, 2000·JAMA : the Journal of the American Medical Association·G E GreenE S Cohn
Jan 25, 2002·The New England Journal of Medicine·Ignacio del CastilloFelipe Moreno
Mar 16, 2002·European Journal of Human Genetics : EJHG·Nathalie Pallares-RuizAnne-Francoise Roux
Aug 13, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Aileen KennesonColeen Boyle
Apr 23, 2003·Archives of Otolaryngology--head & Neck Surgery·Simon Angeli
Aug 19, 2003·Ear and Hearing·Nathan Fischel-Ghodsian
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Thomas B Friedman, Andrew J Griffith
Nov 25, 2003·Human Mutation·Montserrat Rodríguez-BallesterosIgnacio del Castillo
Dec 25, 2003·European Journal of Human Genetics : EJHG·Delphine FeldmannSandrine Marlin
Feb 27, 2004·Journal of Medical Genetics·K CrynsG Van Camp

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