A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss

@article{Imtiaz2014AFM,
  title={A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss},
  author={Ayesha Imtiaz and David C. Kohrman and Sadaf Naz},
  journal={Human Mutation},
  year={2014},
  volume={35}
}
More than 360 million humans are affected with some degree of hearing loss, either early or later in life. A genetic cause for the disorder is present in a majority of the cases. We mapped a locus (DFNB101) for hearing loss in humans to chromosome 5q in a consanguineous Pakistani family. Exome sequencing revealed an insertion mutation in GRXCR2 as the cause of moderate‐to‐severe and likely progressive hearing loss in the affected individuals of the family. The frameshift mutation is predicted… 
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