Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study
Mutations in the copper zinc superoxide dismutase 1 (<i>SOD1</i>) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all <i>SOD1</i> pathogenic variants identified in...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-09-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/21/18/6807 |
| _version_ | 1797553489856954368 |
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| author | Emilien Bernard Antoine Pegat Juliette Svahn Françoise Bouhour Pascal Leblanc Stéphanie Millecamps Stéphane Thobois Claire Guissart Serge Lumbroso Kevin Mouzat |
| author_facet | Emilien Bernard Antoine Pegat Juliette Svahn Françoise Bouhour Pascal Leblanc Stéphanie Millecamps Stéphane Thobois Claire Guissart Serge Lumbroso Kevin Mouzat |
| author_sort | Emilien Bernard |
| collection | DOAJ |
| description | Mutations in the copper zinc superoxide dismutase 1 (<i>SOD1</i>) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all <i>SOD1</i> pathogenic variants identified in patients followed in the single ALS center of Lyon, France, between 2010 and 2020. Twelve patients from 11 unrelated families are described, including two families with the not yet described <i>H81Y</i> and <i>D126N</i> mutations. Splice site mutations were detected in two families. We discuss implications concerning genetic screening of <i>SOD1</i> gene in familial and sporadic ALS. |
| first_indexed | 2024-03-10T16:16:40Z |
| format | Article |
| id | doaj.art-084a8f0d1e4241d9bcaa3b77204d1b2a |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T16:16:40Z |
| publishDate | 2020-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-084a8f0d1e4241d9bcaa3b77204d1b2a2023-11-20T13:59:17ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-09-012118680710.3390/ijms21186807Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center StudyEmilien Bernard0Antoine Pegat1Juliette Svahn2Françoise Bouhour3Pascal Leblanc4Stéphanie Millecamps5Stéphane Thobois6Claire Guissart7Serge Lumbroso8Kevin Mouzat9Centre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, FranceCentre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, FranceCentre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, FranceCentre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, FranceInstitut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon I, 8 Avenue Rockefeller, 69373 Lyon CEDEX 08, FranceInstitut du Cerveau, ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université, Hôpital Pitié-Salpêtrière, 75646 Paris, FranceCentre SLA de Lyon, Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, Université de Lyon, 59 Boulevard Pinel, 69677 Bron CEDEX, FranceLaboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, FranceLaboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, FranceLaboratoire de Biochimie et Biologie Moleculaire, CHU Nimes, Nimes, Motoneuron Disease: Pathophysiology and Therapy, INM, University Montpellier, 30029 Nîmes CEDEX 9, FranceMutations in the copper zinc superoxide dismutase 1 (<i>SOD1</i>) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all <i>SOD1</i> pathogenic variants identified in patients followed in the single ALS center of Lyon, France, between 2010 and 2020. Twelve patients from 11 unrelated families are described, including two families with the not yet described <i>H81Y</i> and <i>D126N</i> mutations. Splice site mutations were detected in two families. We discuss implications concerning genetic screening of <i>SOD1</i> gene in familial and sporadic ALS.https://www.mdpi.com/1422-0067/21/18/6807amyotrophic lateral sclerosiscopper zinc superoxide dismutase 1<i>SOD1</i> |
| spellingShingle | Emilien Bernard Antoine Pegat Juliette Svahn Françoise Bouhour Pascal Leblanc Stéphanie Millecamps Stéphane Thobois Claire Guissart Serge Lumbroso Kevin Mouzat Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study International Journal of Molecular Sciences amyotrophic lateral sclerosis copper zinc superoxide dismutase 1 <i>SOD1</i> |
| title | Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study |
| title_full | Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study |
| title_fullStr | Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study |
| title_full_unstemmed | Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study |
| title_short | Clinical and Molecular Landscape of ALS Patients with <i>SOD1</i> Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study |
| title_sort | clinical and molecular landscape of als patients with i sod1 i mutations novel pathogenic variants and novel phenotypes a single als center study |
| topic | amyotrophic lateral sclerosis copper zinc superoxide dismutase 1 <i>SOD1</i> |
| url | https://www.mdpi.com/1422-0067/21/18/6807 |
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