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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F16%3A10332868" target="_blank" >RIV/00064203:_____/16:10332868 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/16:10332868

  • Result on the web

    <a href="http://dx.doi.org/10.1038/gim.2016.32" target="_blank" >http://dx.doi.org/10.1038/gim.2016.32</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1038/gim.2016.32" target="_blank" >10.1038/gim.2016.32</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

  • Original language description

    Purpose: Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations in genes encoding components of the RAS mitogen-activated protein kinase (MAPK) pathway. RIT1 was recently reported as a disease gene for NS, but the number of published cases is still limited. Methods: We sequenced RIT1 in 310 mutation-negative individuals with a suspected RASopathy and prospectively in individuals who underwent genetic testing for NS. Using a standardized form, we recorded clinical features of all RIT1 mutation-positive patients. Clinical and genotype data from 36 individuals with RIT1 mutation reported previously were reviewed. Results: Eleven different RIT1 missense mutations, three of which were novel, were identified in 33 subjects from 28 families; codons 57, 82, and 95 represent mutation hotspots. In relation to NS of other genetic etiologies, prenatal abnormalities, cardiovascular disease, and lymphatic abnormalities were common in individuals with RIT1 mutation, whereas short stature, intellectual problems, pectus anomalies, and ectodermal findings were less frequent. Conclusion: RIT1 is one of the major genes for NS. The RIT1-associated phenotype differs gradually from other NS subtypes, with a high prevalence of cardiovascular manifestations, especially hypertrophic cardiomyopathy, and lymphatic problems.

  • 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

    2016

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Genetics in Medicine

  • ISSN

    1098-3600

  • e-ISSN

  • Volume of the periodical

    18

  • Issue of the periodical within the volume

    12

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    9

  • Pages from-to

    1226-1234

  • UT code for WoS article

    000389563700010

  • EID of the result in the Scopus database

    2-s2.0-85000839255