Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

  title={Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations},
  author={Ken Inoue and Mehrdad Khajavi and Tomoko Ohyama and Shin-ichi Hirabayashi and John Wilson and James D. Reggin and Pedro Mancias and Ian J. Butler and Miles F. Wilkinson and Michael Wegner and James R Lupski},
  journal={Nature Genetics},
The molecular mechanisms by which different mutations in the same gene can result in distinct disease phenotypes remain largely unknown. Truncating mutations of SOX10 cause either a complex neurocristopathy designated PCWH or a more restricted phenotype known as Waardenburg-Shah syndrome (WS4; OMIM 277580). Here we report that although all nonsense and frameshift mutations that cause premature termination of translation generate truncated SOX10 proteins with potent dominant-negative activity… CONTINUE READING
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