WFS1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Wolframin
  • Involved in endoplasmic reticulum function and calcium homeostasis
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal recessive
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Diabetes insipidus
  • Diabetes mellitus
  • Hearing loss
Key investigations
  • Genetic testing: identification of WFS1 mutations
  • Blood tests for diabetes
  • Audiometric assessments
Management
  • Multidisciplinary approach including endocrinology, neurology, and ophthalmologys
Therapies under research
  • None at present

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References

  1.  Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. Journal of medical genetics. 2006 May 1;43(5):435-40.

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Updated on July 5, 2024
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