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
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Czech description
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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
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Result continuities
Project
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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
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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