Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
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ABSTRACT:
SUBMITTER: Bourne SC
PROVIDER: S-EPMC5171695 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Publications
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo <i>OPA3</i> mutation.
Bourne Stephanie C SC Townsend Katelin N KN Shyr Casper C Matthews Allison A Lear Scott A SA Attariwala Raj R Lehman Anna A Wasserman Wyeth W WW van Karnebeek Clara C Sinclair Graham G Vallance Hilary H Gibson William T WT
Cold Spring Harbor molecular case studies 20170101 1
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 (<i>OPA3</i>) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant <i>OPA3</i> mutations. ...[more]
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