Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

@inproceedings{Naito2013ComprehensiveGS,
  title={Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation},
  author={Takehiko Naito and Shin-Ya Nishio and Yoh-ichiro Iwasa and Takuya Yano and Kozo Kumakawa and Satoko Abe and Kotaro Ishikawa and Hiromi Kojima and Atsushi Namba and Chie Oshikawa and Shin-ichi Usami},
  booktitle={PloS one},
  year={2013}
}
The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) families identified 19 families… CONTINUE READING

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Showing 1-10 of 18 references

Genetics of hearing loss: focus on DFNA2

The application of clinical genetics • 2012
View 4 Excerpts
Highly Influenced

, Is Mutated in Dominant Deafness

LM Dominguez, KM Dodson
2012

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