Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

@article{Chen2011MutationAO,
  title={Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.},
  author={Neng Chen and Lisbeth Tranebj{\ae}rg and Nanna Dahl Rendtorff and Iris Schrijver},
  journal={The Journal of molecular diagnostics : JMD},
  year={2011},
  volume={13 4},
  pages={416-26}
}
Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites to identify mutations for individual patients. Although Sanger sequencing is the gold standard for mutation detection, screening methods supplemented with targeted sequencing can provide a cost… CONTINUE READING