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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.

Author information

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

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