A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

@article{Burdon2007AND,
  title={A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.},
  author={Kathryn P Burdon and Shiwani Sharma and Celia S Chen and David P. Dimasi and David A Mackey and Jamie Evan Craig},
  journal={Human mutation},
  year={2007},
  volume={28 7},
  pages={742}
}
Hereditary hyperferritinemia cataract syndrome (HHCS) is characterized by distinctive cataracts and high serum ferritin in the absence of iron overload. It is caused by mutations in the iron response element (IRE) of the Ferritin Light Chain (FTL) gene. Here we investigate the genetics of HHCS in a three generation Australian kindred with typical HHCS ocular lens morphology and high ferritin levels. Initial sequencing of the IRE failed to detect any mutations. Sequencing of the entire gene… CONTINUE READING

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