SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

@article{Anwar2009SLC26A4MS,
  title={SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis},
  author={Saima Anwar and Saima Riazuddin and Z M Ahmed and Saba Tasneem and Ateeq-ul-Jaleel and Shahid Yar Khan and Andrew J. Griffith and Thomas B Friedman and S. Amer Riazuddin},
  journal={Journal of Human Genetics},
  year={2009},
  volume={54},
  pages={266-270}
}
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin, a transmembrane exchanger of Cl−, I− and HCO3−, which is expressed in the thyroid and inner ear. SLC26A4 mutations can also be associated with non-syndromic deafness, DFNB4. The goal of our study was to define the identities and frequencies of SLC26A4 mutations in 563 large, consanguineous Pakistani families… CONTINUE READING
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