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

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

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


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.


ataxia; congenital nuclear cataract; progressive peripheral neuropathy

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