FTL gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Ferritin light chain
  • Involved in iron storage and detoxification
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Ocular features
  • Photosensitivity
  • Retinal degeneration
  • Cataracts
Visual function
  • Progressive vision loss
Systemic features
  • Movement disorders (e.g., chorea, dystonia)
  • Neurodegeneration
Key investigations
  • MRI: detection of brain iron accumulation
  • Genetic testing: identification of FTL mutations
Management
  • Symptomatic treatment for movement disorders
  • Regular neurological and ophthalmological follow-up
Therapies under research
  • None currently specified

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References

  1. Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE. A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site. Human mutation. 2007 Jul;28(7):742-.

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Updated on July 8, 2024
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