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

Stephanie C. Bourne; Katelin N. Townsend; Casper Shyr; Allison Matthews; Scott A. Lear; Raj Attariwala; Anna Lehman; Wyeth W. Wasserman; Clara van Karnebeek; Graham Sinclair; Hilary Vallance; William T. Gibson

doi:10.1101/mcs.a001156

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

Stephanie C. Bourne
, Katelin N. Townsend
, Casper Shyr
, Allison Matthews
, Scott A. Lear
, Raj Attariwala
, Anna Lehman
, Wyeth W. Wasserman
, Clara van Karnebeek
, Graham Sinclair
, Hilary Vallance
, William T. Gibson

pre-AMC

Research output: Contribution to journal › Article › Academic › peer-review

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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

Original language	English
Pages (from-to)	a001156
Journal	Cold Spring Harbor molecular case studies
Volume	3
Issue number	1
DOIs	https://doi.org/10.1101/mcs.a001156
Publication status	Published - 2017

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Bourne, S. C., Townsend, K. N., Shyr, C., Matthews, A., Lear, S. A., Attariwala, R., Lehman, A., Wasserman, W. W., van Karnebeek, C., Sinclair, G., Vallance, H., & Gibson, W. T. (2017). Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation. Cold Spring Harbor molecular case studies, 3(1), a001156. https://doi.org/10.1101/mcs.a001156

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

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",

author = "Bourne, \{Stephanie C.\} and Townsend, \{Katelin N.\} and Casper Shyr and Allison Matthews and Lear, \{Scott A.\} and Raj Attariwala and Anna Lehman and Wasserman, \{Wyeth W.\} and \{van Karnebeek\}, Clara and Graham Sinclair and Hilary Vallance and Gibson, \{William T.\}",

year = "2017",

doi = "10.1101/mcs.a001156",

language = "English",

volume = "3",

pages = "a001156",

journal = "Cold Spring Harbor molecular case studies",

issn = "2373-2873",

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Bourne, SC, Townsend, KN, Shyr, C, Matthews, A, Lear, SA, Attariwala, R, Lehman, A, Wasserman, WW, van Karnebeek, C, Sinclair, G, Vallance, H & Gibson, WT 2017, 'Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation', Cold Spring Harbor molecular case studies, vol. 3, no. 1, pp. a001156. https://doi.org/10.1101/mcs.a001156

TY - JOUR

T1 - Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

AU - Bourne, Stephanie C.

AU - Townsend, Katelin N.

AU - Shyr, Casper

AU - Matthews, Allison

AU - Lear, Scott A.

AU - Attariwala, Raj

AU - Lehman, Anna

AU - Wasserman, Wyeth W.

AU - van Karnebeek, Clara

AU - Sinclair, Graham

AU - Vallance, Hilary

AU - Gibson, William T.

PY - 2017

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N2 - 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

AB - 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

U2 - 10.1101/mcs.a001156

DO - 10.1101/mcs.a001156

M3 - Article

C2 - 28050599

SN - 2373-2873

VL - 3

SP - a001156

JO - Cold Spring Harbor molecular case studies

JF - Cold Spring Harbor molecular case studies

IS - 1

ER -

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

Abstract

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