A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

@article{Kitajiri2007ANM,
  title={A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.},
  author={S Kitajiri and Tomoko Makishima and Thomas B Friedman and Andrew J. Griffith},
  journal={Clinical genetics},
  year={2007},
  volume={71 2},
  pages={148-52}
}
We ascertained a North American Caucasian family (LMG248) segregating autosomal dominant, non-syndromic, post-lingual, progressive sensorineural hearing loss. The hearing loss begins in the second decade of life and initially affects high frequencies. It progresses to profound deafness at all frequencies by the fourth or fifth decade. The phenotype co-segregates with short-tandem repeat markers flanking the TMC1 gene at the DFNA36 locus on chromosome 9q31-q21. The affected individuals carry a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

Similar Papers

Loading similar papers…