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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F20%3A00124467" target="_blank" >RIV/00216224:14310/20:00124467 - isvavai.cz</a>

  • Result on the web

    <a href="https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd190423" target="_blank" >https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd190423</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3233/JND-190423" target="_blank" >10.3233/JND-190423</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

  • Original language description

    BACKGROUND: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin gene (TTN) are detected frequently in any individual. Unambiguous interpretation of molecular findings is almost impossible in many patients with myopathies or cardiomyopathies. OBJECTIVE: To refine the current classification framework for TTN-associated skeletal muscle disorders and standardize the interpretation of TTN variants. METHODS: We used the guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) to re-analyze TTN genetic findings from our patient cohort. RESULTS: We identified in the classification guidelines three rules that are not applicable to titin-related skeletal muscle disorders; six rules that require disease-/gene-specific adjustments and four rules requiring quantitative thresholds for a proper use. In three cases, the rule strength need to be modified. CONCLUSIONS: We suggest adjustments are made to the guidelines. We provide frequency thresholds to facilitate filtering of candidate causative variants and guidance for the use and interpretation of functional data and co-segregation evidence. We expect that the variant classification framework for TTN-related skeletal muscle disorders will be further improved along with a better understanding of these diseases.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30210 - Clinical neurology

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2020

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Neuromuscular Diseases

  • ISSN

    2214-3599

  • e-ISSN

    2214-3602

  • Volume of the periodical

    7

  • Issue of the periodical within the volume

    2

  • Country of publishing house

    NL - THE KINGDOM OF THE NETHERLANDS

  • Number of pages

    14

  • Pages from-to

    153-166

  • UT code for WoS article

    000685105100008

  • EID of the result in the Scopus database

    2-s2.0-85082147832