A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

@article{Wasano2015ANF,
  title={A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.},
  author={Koichiro Wasano and Hideki Mutai and Chie Obuchi and Sawako Masuda and Tatsuo Matsunaga},
  journal={Biochemical and biophysical research communications},
  year={2015},
  volume={463 4},
  pages={582-6}
}
Mutation of KCNQ4 has been reported to cause autosomal dominant non-syndromic hearing loss (DFNA2A) that usually presents as progressive hearing loss starting from mild to moderate hearing loss during childhood. Here, we identified a novel KCNQ4 mutation, c.1044_1051del8, in a family with autosomal recessive non-syndromic hearing loss. The proband was homozygous for the mutation and was born to consanguineous parents; she showed severe hearing loss that was either congenital or of early… CONTINUE READING
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