title: 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.
authors: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors: Amiel A
authors: AA
authors: Dror
authors: Zippora
authors: Z
authors: Brownstein
authors: Karen B
authors: KB
authors: Avraham
mesh_terms: D000818:Animals; D000838:Anions / Q000378:metabolism; D007758:Ear, Inner / Q000503:physiopathology; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D000838:Anions; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters