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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...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2017
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| Materias: | |
| 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 |
| _version_ | 1782483990937075712 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Bourne, Stephanie C. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5171695 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Cold Spring Harbor Laboratory Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51716952017-01-04 Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation 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. Cold Spring Harb Mol Case Stud Research Report 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. Cold Spring Harbor Laboratory Press 2017-01 /pmc/articles/PMC5171695/ /pubmed/28050599 http://dx.doi.org/10.1101/mcs.a001156 Text en © 2017 Bourne et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited. |
| spellingShingle | Research Report 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. Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title | Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title_full | Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title_fullStr | Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title_full_unstemmed | Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title_short | Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation |
| title_sort | optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo opa3 mutation |
| topic | Research Report |
| url | 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 |
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