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
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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
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
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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