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

[pendred syndrome]

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 DFNB 4 non-syndromic hearing loss . While thus far most of the mutations have been in the SLC 26 A 4 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 SLC 26 A 4 -associated deafness . Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future .