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Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families
Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60–70% of ADOA cases. A subset of missense mutations, m...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002/ https://www.ncbi.nlm.nih.gov/pubmed/22197506 http://dx.doi.org/10.1016/j.jns.2011.12.002 |
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author | Ranieri, Michela Del Bo, Roberto Bordoni, Andreina Ronchi, Dario Colombo, Irene Riboldi, Giulietta Cosi, Alessandra Servida, Maura Magri, Francesca Moggio, Maurizio Bresolin, Nereo Comi, Giacomo P. Corti, Stefania |
author_facet | Ranieri, Michela Del Bo, Roberto Bordoni, Andreina Ronchi, Dario Colombo, Irene Riboldi, Giulietta Cosi, Alessandra Servida, Maura Magri, Francesca Moggio, Maurizio Bresolin, Nereo Comi, Giacomo P. Corti, Stefania |
author_sort | Ranieri, Michela |
collection | PubMed |
description | Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60–70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called “OPA1 plus” phenotype presenting, at muscle level, mitochondrial DNA (mtDNA) instability. In this study we disclosed two OPA1 gene mutations in independent probands from two families affected by OPA1 plus phenotype: the previously reported c.985-2A > G substitution and a novel microdeletion (c.2819-1_2821del). The correlation between genotype and phenotype and the effects of these variants at the transcript level and in the muscle tissue were investigated, confirming the broad complexity in the phenotypic spectrum associated with these OPA1 mutations. |
format | Online Article Text |
id | pubmed-3315002 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-33150022012-04-15 Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families Ranieri, Michela Del Bo, Roberto Bordoni, Andreina Ronchi, Dario Colombo, Irene Riboldi, Giulietta Cosi, Alessandra Servida, Maura Magri, Francesca Moggio, Maurizio Bresolin, Nereo Comi, Giacomo P. Corti, Stefania J Neurol Sci Short Communication Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60–70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called “OPA1 plus” phenotype presenting, at muscle level, mitochondrial DNA (mtDNA) instability. In this study we disclosed two OPA1 gene mutations in independent probands from two families affected by OPA1 plus phenotype: the previously reported c.985-2A > G substitution and a novel microdeletion (c.2819-1_2821del). The correlation between genotype and phenotype and the effects of these variants at the transcript level and in the muscle tissue were investigated, confirming the broad complexity in the phenotypic spectrum associated with these OPA1 mutations. Elsevier 2012-04-15 /pmc/articles/PMC3315002/ /pubmed/22197506 http://dx.doi.org/10.1016/j.jns.2011.12.002 Text en © 2012 Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license |
spellingShingle | Short Communication Ranieri, Michela Del Bo, Roberto Bordoni, Andreina Ronchi, Dario Colombo, Irene Riboldi, Giulietta Cosi, Alessandra Servida, Maura Magri, Francesca Moggio, Maurizio Bresolin, Nereo Comi, Giacomo P. Corti, Stefania Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title | Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title_full | Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title_fullStr | Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title_full_unstemmed | Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title_short | Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families |
title_sort | optic atrophy plus phenotype due to mutations in the opa1 gene: two more italian families |
topic | Short Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002/ https://www.ncbi.nlm.nih.gov/pubmed/22197506 http://dx.doi.org/10.1016/j.jns.2011.12.002 |
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