Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment

@article{Hilgert2009AminoA5,
  title={Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment},
  author={Nele Hilgert and Kelly Monahan and Kiyoto Kurima and Cindy Mei Jin Li and Rick A Friedman and Andrew J. Griffith and Guy Van Camp},
  journal={Journal of Human Genetics},
  year={2009},
  volume={54},
  pages={188-190}
}
Two different missense mutations, p.D572N and p.D572H, affecting the same nucleotide and codon of the TMC1 gene were earlier reported to cause autosomal dominant hearing impairment at locus DFNA36 in two North American families. No other dominant mutations of human TMC1 have been published. We ascertained a third North American family segregating autosomal dominant nonsyndromic hearing impairment at the DFNA36 locus. We identified the p.D572N mutation of TMC1 co-segregating with hearing loss in… CONTINUE READING