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

Stephanie C Bourne; Katelin N Townsend; Casper Shyr; Allison Matthews; Scott A Lear; Raj Attariwala; Anna Lehman; Wyeth W Wasserman; Clara van Karnebeek; Graham Sinclair; Hilary Vallance; William T Gibson

doi:10.1101/mcs.a001156

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

Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156.

Authors

Stephanie C Bourne¹, Katelin N Townsend^{2

3}, Casper Shyr^{2

3}, Allison Matthews^{2

3}, Scott A Lear⁴, Raj Attariwala⁵, Anna Lehman², Wyeth W Wasserman^{2

3}, Clara van Karnebeek^{2

3}, Graham Sinclair⁶, Hilary Vallance⁶, William T Gibson^{2

3}

Affiliations

¹ Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada.
² Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
³ Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, British Columbia V5Z 4H4, Canada.
⁴ Faculty of Health Sciences, Simon Fraser University, Vancouver, British Columbia V5A 1S6, Canada.
⁵ AIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada.
⁶ Department of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.

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.

Keywords: ataxia; congenital nuclear cataract; progressive peripheral neuropathy.