View in EDS HTML Full Text PDF Full Text

Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.

Saved in:
Bibliographic Details
Title: Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
Authors: Börklü-Yücel, Esra (AUTHOR), Demiriz, Çiğdem (AUTHOR), Avcı, Şahin (AUTHOR), Vanlı-Yavuz, Ebru Nur (AUTHOR), Eraslan, Serpil (AUTHOR), Oflazer, Piraye (AUTHOR), Kayserili, Hülya (AUTHOR)
Source: Neurological Sciences. Aug2020, Vol. 41 Issue 8, p2157-2164. 8p. 1 Graph.
Subjects: Neuromuscular diseases, Muscular dystrophy, Nucleotide sequencing, Genetic disorders, Diagnosis
Geographic Terms: Turkey
Abstract: Neuromuscular diseases (NMDs) encompass a variety of ailments from muscular dystrophies to ataxias, in the course of which the functioning of the muscles is eventually either directly or indirectly impaired. The clinical diagnosis of a particular NMD is not always straightforward due to the clinical and genetic heterogeneity of the disorders under investigation. Traditional diagnostic tools such as electrophysiological tests and muscle biopsies are both invasive and painful methods, causing the patients to be reluctant. Next-generation sequencing, on the other hand, emerged as an alternative method for the diagnosis of NMDs, both with its minimally invasive nature and fast processing period. In this study, clinical exome sequencing (CES) was applied to a cohort of 70 probands in Turkey, 44 of whom received a final diagnosis, representing a diagnostic rate of 62.9%. Out of the 50 mutations identified to be causal, 26 were novel in the known 27 NMD genes. Two probands had complex/blended phenotypes. Molecular confirmation of clinical diagnosis of NMDs has a major prognostic impact and is crucial for the management and the possibility of alternative reproductive options. CES, which has been increasingly adopted to diagnose single-gene disorders, is also a powerful tool for revealing the etiopathogenesis in complex/blended phenotypes, as observed in two probands of the cohort. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature 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.)
Database: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 144709104
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Börklü-Yücel%2C+Esra%22">Börklü-Yücel, Esra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Demiriz%2C+Çiğdem%22">Demiriz, Çiğdem</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Avcı%2C+Şahin%22">Avcı, Şahin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vanlı-Yavuz%2C+Ebru+Nur%22">Vanlı-Yavuz, Ebru Nur</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Eraslan%2C+Serpil%22">Eraslan, Serpil</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Oflazer%2C+Piraye%22">Oflazer, Piraye</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kayserili%2C+Hülya%22">Kayserili, Hülya</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2020, Vol. 41 Issue 8, p2157-2164. 8p. 1 Graph.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Muscular+dystrophy%22">Muscular dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Nucleotide+sequencing%22">Nucleotide sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Diagnosis%22">Diagnosis</searchLink>
– Name: SubjectGeographic
  Label: Geographic Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Turkey%22">Turkey</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Neuromuscular diseases (NMDs) encompass a variety of ailments from muscular dystrophies to ataxias, in the course of which the functioning of the muscles is eventually either directly or indirectly impaired. The clinical diagnosis of a particular NMD is not always straightforward due to the clinical and genetic heterogeneity of the disorders under investigation. Traditional diagnostic tools such as electrophysiological tests and muscle biopsies are both invasive and painful methods, causing the patients to be reluctant. Next-generation sequencing, on the other hand, emerged as an alternative method for the diagnosis of NMDs, both with its minimally invasive nature and fast processing period. In this study, clinical exome sequencing (CES) was applied to a cohort of 70 probands in Turkey, 44 of whom received a final diagnosis, representing a diagnostic rate of 62.9%. Out of the 50 mutations identified to be causal, 26 were novel in the known 27 NMD genes. Two probands had complex/blended phenotypes. Molecular confirmation of clinical diagnosis of NMDs has a major prognostic impact and is crucial for the management and the possibility of alternative reproductive options. CES, which has been increasingly adopted to diagnose single-gene disorders, is also a powerful tool for revealing the etiopathogenesis in complex/blended phenotypes, as observed in two probands of the cohort. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature 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.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=144709104
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-020-04304-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 8
        StartPage: 2157
    Subjects:
      – SubjectFull: Neuromuscular diseases
        Type: general
      – SubjectFull: Muscular dystrophy
        Type: general
      – SubjectFull: Nucleotide sequencing
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Diagnosis
        Type: general
      – SubjectFull: Turkey
        Type: general
    Titles:
      – TitleFull: Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Börklü-Yücel, Esra
      – PersonEntity:
          Name:
            NameFull: Demiriz, Çiğdem
      – PersonEntity:
          Name:
            NameFull: Avcı, Şahin
      – PersonEntity:
          Name:
            NameFull: Vanlı-Yavuz, Ebru Nur
      – PersonEntity:
          Name:
            NameFull: Eraslan, Serpil
      – PersonEntity:
          Name:
            NameFull: Oflazer, Piraye
      – PersonEntity:
          Name:
            NameFull: Kayserili, Hülya
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: Aug2020
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-print
              Value: 15901874
          Numbering:
            – Type: volume
              Value: 41
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Neurological Sciences
              Type: main
ResultId 1