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 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenoty...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5171695/
https://www.ncbi.nlm.nih.gov/pubmed/28050599
http://dx.doi.org/10.1101/mcs.a001156
Descripción
Sumario: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.

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