Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Abstract Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rar...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00292-x |
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| _version_ | 1832594946181300224 |
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| author | Diana Mokhtari Mohammad Jahanpanah Nasim Jabbari Hamed Azari Sana Davarnia Haleh Mokaber Sara Arish Rasol Molatefi Vahid Abbasi Behzad Davarnia |
| author_facet | Diana Mokhtari Mohammad Jahanpanah Nasim Jabbari Hamed Azari Sana Davarnia Haleh Mokaber Sara Arish Rasol Molatefi Vahid Abbasi Behzad Davarnia |
| author_sort | Diana Mokhtari |
| collection | DOAJ |
| description | Abstract Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs. |
| format | Article |
| id | doaj-art-fb5313e0a5954ad18fbce3f34596987f |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-fb5313e0a5954ad18fbce3f34596987f2025-01-19T12:15:57ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111410.1038/s41439-024-00292-xGenetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genesDiana Mokhtari0Mohammad Jahanpanah1Nasim Jabbari2Hamed Azari3Sana Davarnia4Haleh Mokaber5Sara Arish6Rasol Molatefi7Vahid Abbasi8Behzad Davarnia9Department of Genetics and Pathology, Ardabil University of Medical SciencesDepartment of Genetics and Pathology, Ardabil University of Medical SciencesDepartment of Animal Biology, Faculty of Natural Science, University of TabrizDepartment of Genetics and Pathology, Ardabil University of Medical SciencesTabriz University of Medical SciencesDepartment of Biology, Ardabil Branch, Islamic Azad UniversityDepartment of Genetics and Pathology, Ardabil University of Medical SciencesDepartment of Pediatrics, Bo-Ali Children’s Hospital of Ardabil University of Medical SciencesDepartment of Neurology, Ardabil University of Medical SciencesDepartment of Genetics and Pathology, Ardabil University of Medical SciencesAbstract Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and autosomal recessive cerebellar ataxias (ARCAs) are rare, with greater diversity in phenotypic and genotypic features. Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs.https://doi.org/10.1038/s41439-024-00292-x |
| spellingShingle | Diana Mokhtari Mohammad Jahanpanah Nasim Jabbari Hamed Azari Sana Davarnia Haleh Mokaber Sara Arish Rasol Molatefi Vahid Abbasi Behzad Davarnia Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes Human Genome Variation |
| title | Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes |
| title_full | Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes |
| title_fullStr | Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes |
| title_full_unstemmed | Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes |
| title_short | Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes |
| title_sort | genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the sqstm1 and syne1 genes |
| url | https://doi.org/10.1038/s41439-024-00292-x |
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