Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

@article{Dai2009DistinctAN,
  title={Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.},
  author={Pu Dai and A. Keith Stewart and Fouad T. Chebib and Ann Hsu and Julia Rozenfeld and Deliang Huang and Dong-yang Kang and Va Lip and Hong Fang and Hong Shao and Xin Lei Liu and Fei Yu and Huijun Yuan and Margaret A Kenna and David T. Miller and Yiping Shen and Weiyan Yang and Israel Zelikovic and Orah S. Platt and Dong-yi Han and Seth L Alper and Bai-Lin Wu},
  journal={Physiological genomics},
  year={2009},
  volume={38 3},
  pages={281-90}
}
Mutations of the human SLC26A4/PDS gene constitute the most common cause of syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment. We screened for SLC26A4 mutations among Chinese and U.S. subjects with hearing loss, using denaturing HPLC (DHPLC) and direct DNA sequencing. Fifty-two of 55 Chinese subjects… CONTINUE READING