Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
Stephanie C Bourne
1
,
Katelin N. Townsend
2
,
Casper Shyr
2
,
Allison M. Matthews
2
,
Scott A. Lear
3
,
Raj Attariwala
4
,
A. Lehman
5
,
Wyeth W. Wasserman
2
,
C. van Karnebeek
2
,
G. Sinclair
6
,
Hilary D. Vallance
6
,
William C. Gibson
2
3
4
AIM Medical Imaging, Vancouver, British Columbia V6H 1C9, Canada.
|
6
Department of Pathology, British Columbia Children's Hospital, Vancouver, British Columbia V6H 3N1, Canada.
|
Publication type: Journal Article
Publication date: 2016-10-28
scimago Q2
SJR: 0.812
CiteScore: 4.0
Impact factor: —
ISSN: 23732873, 23732865
PubMed ID:
28050599
General Medicine
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.
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12
Total citations:
12
Citations from 2024:
2
(16.67%)
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GOST
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Bourne S. C. et al. Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation // Cold Spring Harbor molecular case studies. 2016. Vol. 3. No. 1. p. a001156.
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Bourne S. C., Townsend K. N., Shyr C., Matthews A. M., Lear S. A., Attariwala R., Lehman A., Wasserman W. W., van Karnebeek C., Sinclair G., Vallance H. D., Gibson W. C. Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation // Cold Spring Harbor molecular case studies. 2016. Vol. 3. No. 1. p. a001156.
Cite this
RIS
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TY - JOUR
DO - 10.1101/mcs.a001156
UR - https://doi.org/10.1101/mcs.a001156
TI - Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation
T2 - Cold Spring Harbor molecular case studies
AU - Bourne, Stephanie C
AU - Townsend, Katelin N.
AU - Shyr, Casper
AU - Matthews, Allison M.
AU - Lear, Scott A.
AU - Attariwala, Raj
AU - Lehman, A.
AU - Wasserman, Wyeth W.
AU - van Karnebeek, C.
AU - Sinclair, G.
AU - Vallance, Hilary D.
AU - Gibson, William C.
PY - 2016
DA - 2016/10/28
PB - Cold Spring Harbor Laboratory
SP - a001156
IS - 1
VL - 3
PMID - 28050599
SN - 2373-2873
SN - 2373-2865
ER -
Cite this
BibTex (up to 50 authors)
Copy
@article{2016_Bourne,
author = {Stephanie C Bourne and Katelin N. Townsend and Casper Shyr and Allison M. Matthews and Scott A. Lear and Raj Attariwala and A. Lehman and Wyeth W. Wasserman and C. van Karnebeek and G. Sinclair and Hilary D. Vallance and William C. Gibson},
title = {Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation},
journal = {Cold Spring Harbor molecular case studies},
year = {2016},
volume = {3},
publisher = {Cold Spring Harbor Laboratory},
month = {oct},
url = {https://doi.org/10.1101/mcs.a001156},
number = {1},
pages = {a001156},
doi = {10.1101/mcs.a001156}
}
Cite this
MLA
Copy
Bourne, Stephanie C., et al. “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, Oct. 2016, p. a001156. https://doi.org/10.1101/mcs.a001156.