Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

  1. William T. Gibson2,3
  1. 1Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada;
  2. 2Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada;
  3. 3Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada;
  4. 4Faculty of Health Sciences, Simon Fraser University, Vancouver, British Columbia V5A 1S6, Canada;
  5. 5AIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada;
  6. 6Department of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada
  1. Corresponding author: wtgibson{at}cfri.ubc.ca

Abstract

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.

Footnotes

  • [Supplemental material is available for this article.]

  • Received April 17, 2016.
  • Accepted October 20, 2016.

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