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Integration of human and mouse genetics reveals pendrin function in hearing and deafness.

ABSTRACT: Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss. While thus far most of the mutations have been in the SLC26A4 gene coding for the pendrin protein, other genetic mutations may contribute to these phenotypes as well. Furthermore, mouse models for deafness have been invaluable to help determine the mechanisms for SLC26A4-associated deafness. Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future.

SUBMITTER: Dror AA

PROVIDER: S-EPMC3709173 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Integration of human and mouse genetics reveals pendrin function in hearing and deafness.

Dror Amiel A AA Brownstein Zippora Z Avraham Karen B KB

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 20111118 3

Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss. While thus far most of the mutations have been in the SLC26A4 gene coding for the pendrin protein, other genetic ...[more]

PMID: 22116368

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