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

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 ( ) gene that was confirmed to be de novo. This report expands the severity of the phenotypic...

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Published in:Cold Spring Harbor molecular case studies 2017-01, Vol.3 (1), p.a001156-a001156
Main Authors: Bourne, Stephanie C, Townsend, Katelin N, Shyr, Casper, Matthews, Allison, Lear, Scott A, Attariwala, Raj, Lehman, Anna, Wasserman, Wyeth W, van Karnebeek, Clara, Sinclair, Graham, Vallance, Hilary, Gibson, William T
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Language:English
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Summary: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 ( ) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant mutations.
ISSN:2373-2873
2373-2865
2373-2873
DOI:10.1101/mcs.a001156