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Mutation Screening of MED27 in a Large Dystonia Cohort.

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Title: Mutation Screening of MED27 in a Large Dystonia Cohort.
Authors: Lin, Junyu (AUTHOR), Li, Chunyu (AUTHOR), Hou, Yanbing (AUTHOR), Zhang, Lingyu (AUTHOR), Ou, Ruwei (AUTHOR), Wei, Qianqian (AUTHOR), Liu, Kuncheng (AUTHOR), Xiao, Yi (AUTHOR), Jiang, Qirui (AUTHOR), Shang, Huifang (AUTHOR)
Source: Acta Neurologica Scandinavica. 2/7/2023, p1-6. 6p.
Subjects: Dystonia, Fisher exact test, Genetic variation, Movement disorders, Neurological disorders, Gene frequency
Abstract: Objectives. Recently, biallelic variants in MED27 have been identified to correlate with complex dystonia. However, no replicative study has been conducted in larger dystonia cohorts. In this study, we aimed to systematically evaluate the genetic associations of MED27 with dystonia in a large dystonia cohort. Materials and Methods. We analyzed rare variants (minor allele frequency < 0.01) of MED27 in a large Chinese dystonia cohort with whole exome sequencing. The overrepresentation of rare variants in patients was examined with Fisher's exact test at allele and gene levels. Results. A total of 688 patients with dystonia were included in the study, including 483 isolated dystonia, 133 combined dystonia, and 72 complex dystonia. The average age at onset (SD) was 34.3 (19.1) years old. After applying filtering criteria, five rare variants, namely, p.R247H, p.P174A, p.P123A, p.L120F, and p.F56C, were identified in six individuals. All of them carried the variant in the heterozygous form, and no patients with compound heterozygous or homozygous alleles were identified. At allele level, no variant was associated with risk of dystonia. Gene-based burden analysis did not detect enrichment of rare variants of MED27 in dystonia either. Conclusion. Variants of MED27 were rare in Chinese dystonia patients, probably because that mutations in MED27 are more associated with more complex neurodevelopmental disorders that can also include dystonia among the various neurological features. Further studies are needed to confirm the role of MED27 in dystonia and other neurological disorders. [ABSTRACT FROM AUTHOR]
Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Mutation Screening of MED27 in a Large Dystonia Cohort.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Lin%2C+Junyu%22&quot;&gt;Lin, Junyu&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Li%2C+Chunyu%22&quot;&gt;Li, Chunyu&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Hou%2C+Yanbing%22&quot;&gt;Hou, Yanbing&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Zhang%2C+Lingyu%22&quot;&gt;Zhang, Lingyu&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Ou%2C+Ruwei%22&quot;&gt;Ou, Ruwei&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Wei%2C+Qianqian%22&quot;&gt;Wei, Qianqian&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Liu%2C+Kuncheng%22&quot;&gt;Liu, Kuncheng&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Xiao%2C+Yi%22&quot;&gt;Xiao, Yi&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Jiang%2C+Qirui%22&quot;&gt;Jiang, Qirui&lt;/searchLink&gt; (AUTHOR)&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Shang%2C+Huifang%22&quot;&gt;Shang, Huifang&lt;/searchLink&gt; (AUTHOR)
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22Acta+Neurologica+Scandinavica%22&quot;&gt;Acta Neurologica Scandinavica&lt;/searchLink&gt;. 2/7/2023, p1-6. 6p.
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Dystonia%22&quot;&gt;Dystonia&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Fisher+exact+test%22&quot;&gt;Fisher exact test&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Genetic+variation%22&quot;&gt;Genetic variation&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Movement+disorders%22&quot;&gt;Movement disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Neurological+disorders%22&quot;&gt;Neurological disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22Gene+frequency%22&quot;&gt;Gene frequency&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objectives. Recently, biallelic variants in MED27 have been identified to correlate with complex dystonia. However, no replicative study has been conducted in larger dystonia cohorts. In this study, we aimed to systematically evaluate the genetic associations of MED27 with dystonia in a large dystonia cohort. Materials and Methods. We analyzed rare variants (minor allele frequency &lt; 0.01) of MED27 in a large Chinese dystonia cohort with whole exome sequencing. The overrepresentation of rare variants in patients was examined with Fisher&#39;s exact test at allele and gene levels. Results. A total of 688 patients with dystonia were included in the study, including 483 isolated dystonia, 133 combined dystonia, and 72 complex dystonia. The average age at onset (SD) was 34.3 (19.1) years old. After applying filtering criteria, five rare variants, namely, p.R247H, p.P174A, p.P123A, p.L120F, and p.F56C, were identified in six individuals. All of them carried the variant in the heterozygous form, and no patients with compound heterozygous or homozygous alleles were identified. At allele level, no variant was associated with risk of dystonia. Gene-based burden analysis did not detect enrichment of rare variants of MED27 in dystonia either. Conclusion. Variants of MED27 were rare in Chinese dystonia patients, probably because that mutations in MED27 are more associated with more complex neurodevelopmental disorders that can also include dystonia among the various neurological features. Further studies are needed to confirm the role of MED27 in dystonia and other neurological disorders. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: &lt;i&gt;Copyright of Acta Neurologica Scandinavica is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.1155/2023/4967173
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 6
        StartPage: 1
    Subjects:
      – SubjectFull: Dystonia
        Type: general
      – SubjectFull: Fisher exact test
        Type: general
      – SubjectFull: Genetic variation
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      – SubjectFull: Movement disorders
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      – SubjectFull: Neurological disorders
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      – SubjectFull: Gene frequency
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      – TitleFull: Mutation Screening of MED27 in a Large Dystonia Cohort.
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              M: 02
              Text: 2/7/2023
              Type: published
              Y: 2023
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