DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

@inproceedings{Vona2015DFNB16IA,
  title={DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics},
  author={Barbara Vona and MAH Hofrichter and Cordula Neuner and J{\"o}rg Schr{\"o}der and Andrea E. Gehrig and JB Hennermann and Fabian B. T. Kraus and Wafaa Shehata-Dieler and Eva Klopocki and Indrajit Nanda and Thomas Haaf},
  booktitle={Clinical genetics},
  year={2015}
}
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A major challenge is due to a closely linked pseudogene with 99.6% coding sequence identity. In 94 GJB2/GJB6-mutation negative individuals with non-syndromic sensorineural hearing loss (NSHL), we identified two homozygous and six heterozygous deletions, encompassing the STRC region by microarray and/or quantitative polymerase chain reaction (qPCR) analysis. To detect… CONTINUE READING

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