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Article

Molecular diagnosis of hearing loss.

Current protocols in human genetics - 1 Nov 2004

Rehm Heidi L

Abstract excerpt

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...

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Identifiers

PMID: 18428366
DOI: 10.1002/0471142905.hg0916s43

Genes

GJB2
GJB6

Provenance

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