A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases

@article{Wang2017AND,
  title={A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases},
  author={Hongyang Wang and Jing Guan and Lan Lan and Lan Yu and Linyi Xie and Xu Wen Liu and Ju Yang and Cui Zhao and Dayong Wang and Qiuju Wang},
  journal={Science China Life Sciences},
  year={2017},
  volume={61},
  pages={729-732}
}
Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes (Lambrechts et al., 2004). Of the six human genes that encode actins, only ACTG1 and ACTB are ubiquitously expressed. ACTG1 (OMIM #604717), which is linked to the DFNA20/26 locus, was identified in autosomal dominant, non-syndromic hearing loss (NSHL) cases (Baek et al., 2012; Liu et al., 2008; Park et al., 2013; Yuan et al., 2016). In addition, some ACTG1 (OMIM #614583) mutations are associated… CONTINUE READING
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