Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

@article{Schraders2010MutationsIP,
  title={Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.},
  author={Margit Schraders and Jaap Oostrik and Patrick L. M. Huygen and Tim Matthias Strom and Erwin van Wijk and H P Kunst and Lies H. Hoefsloot and Cor Wrj Cremers and Ronald J. C. Admiraal and Hannie Kremer},
  journal={American journal of human genetics},
  year={2010},
  volume={86 4},
  pages={
          604-10
        }
}
We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). The critical region of 3.17 Mb harbored the PTPRQ gene and mouse models with homozygous mutations in the orthologous gene display severe hearing loss. We show that the human PTPRQ gene was not completely annotated and that additional, alternatively spliced exons are present… CONTINUE READING
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