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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10315921" target="_blank" >RIV/00216208:11130/15:10315921 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064203:_____/15:10315921

  • Result on the web

    <a href="http://dx.doi.org/10.1002/humu.22834" target="_blank" >http://dx.doi.org/10.1002/humu.22834</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/humu.22834" target="_blank" >10.1002/humu.22834</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

  • Original language description

    The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certainmalignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homo

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Human Mutation

  • ISSN

    1059-7794

  • e-ISSN

  • Volume of the periodical

    36

  • Issue of the periodical within the volume

    11

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    8

  • Pages from-to

    1080-1087

  • UT code for WoS article

    000362991400011

  • EID of the result in the Scopus database

    2-s2.0-84944179450