An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing...
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2014-10-01
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| Series: | Iranian Journal of Basic Medical Sciences |
| Subjects: | |
| Online Access: | http://ijbms.mums.ac.ir/pdf_3443_c9ae74289f876dadd065b6cc07c38b14.html |
| _version_ | 1818750213678956544 |
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| author | Afagh Alavi Marzieh Khani Shahriar Nafissi Hosein Shamshiri Elahe Elahi |
| author_facet | Afagh Alavi Marzieh Khani Shahriar Nafissi Hosein Shamshiri Elahe Elahi |
| author_sort | Afagh Alavi |
| collection | DOAJ |
| description | Objective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes of the disease. In Iranian patients, it has been shown that SOD1, as compared to C9orf72, plays a much more prominent role. To date, more than 170 mutations have been reported in SOD1. Genotype/phenotype correlation with respect to either different causative genes or different mutations of a specific gene has not been well established.
Materials and Methods: Five exons of SOD1 and flanking intronic sequences of an Iranian FALS proband were screened for mutations by direct sequencing. Also, the clinical features of the proband were described.
Results: Heterozygous p.Val48Phe causing mutation was identified in SOD1. Age at onset was 29 years and site of the first presentation was the lower extremity in the proband.
Conclusion: The p.Val48Phe causing mutation appears to cause early onset of ALS. |
| first_indexed | 2024-12-18T04:16:03Z |
| format | Article |
| id | doaj.art-d042313a7bfc432cb69975a4d8fba717 |
| institution | Directory Open Access Journal |
| issn | 2008-3866 2008-3874 |
| language | English |
| last_indexed | 2024-12-18T04:16:03Z |
| publishDate | 2014-10-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Basic Medical Sciences |
| spelling | doaj.art-d042313a7bfc432cb69975a4d8fba7172022-12-21T21:21:22ZengMashhad University of Medical SciencesIranian Journal of Basic Medical Sciences2008-38662008-38742014-10-0117107357393443An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical reportAfagh Alavi0Marzieh Khani1Shahriar Nafissi2Hosein Shamshiri3Elahe Elahi4School of Biology, College of Science, University of Tehran, Tehran, IranSchool of Biology, College of Science, University of Tehran, Tehran, IranDepartment of Neurology, Tehran University of Medical Sciences, Tehran, IranDepartment of Neurology, Tehran University of Medical Sciences, Tehran, IranDepartment of Biotechnology, College of Science, University of Tehran, Tehran, IranObjective(s): Amyotrophic lateral sclerosis (ALS), a fatal progressive neurodegenerative disorder, is the most common motor neuron disease in European populations. Approximately 10% of ALS cases are familial (FALS) and the other patients are considered as sporadic ALS (SALS). Among many ALS causing genes that have been identified, mutations in SOD1 and C9orf72 are the most common genetic causes of the disease. In Iranian patients, it has been shown that SOD1, as compared to C9orf72, plays a much more prominent role. To date, more than 170 mutations have been reported in SOD1. Genotype/phenotype correlation with respect to either different causative genes or different mutations of a specific gene has not been well established. Materials and Methods: Five exons of SOD1 and flanking intronic sequences of an Iranian FALS proband were screened for mutations by direct sequencing. Also, the clinical features of the proband were described. Results: Heterozygous p.Val48Phe causing mutation was identified in SOD1. Age at onset was 29 years and site of the first presentation was the lower extremity in the proband. Conclusion: The p.Val48Phe causing mutation appears to cause early onset of ALS.http://ijbms.mums.ac.ir/pdf_3443_c9ae74289f876dadd065b6cc07c38b14.htmlALS Aamyotrophic lateral sclerosis SOD1 Superoxide dismutase 1 gene p.Val48Phe |
| spellingShingle | Afagh Alavi Marzieh Khani Shahriar Nafissi Hosein Shamshiri Elahe Elahi An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report Iranian Journal of Basic Medical Sciences ALS Aamyotrophic lateral sclerosis SOD1 Superoxide dismutase 1 gene p.Val48Phe |
| title | An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report |
| title_full | An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report |
| title_fullStr | An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report |
| title_full_unstemmed | An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report |
| title_short | An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report |
| title_sort | iranian familial amyotrophic lateral sclerosis pedigree with p val48phe causing mutation in sod1 a genetic and clinical report |
| topic | ALS Aamyotrophic lateral sclerosis SOD1 Superoxide dismutase 1 gene p.Val48Phe |
| url | http://ijbms.mums.ac.ir/pdf_3443_c9ae74289f876dadd065b6cc07c38b14.html |
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