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

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dc.authorscopusid57192187189
dc.authorscopusid55175658900
dc.authorscopusid56107704200
dc.authorscopusid7801384495
dc.authorscopusid26666232300
dc.authorscopusid36515093800
dc.authorscopusid6506164135
dc.contributor.authorKouz, K.
dc.contributor.authorLissewski, C.
dc.contributor.authorSpranger, S.
dc.contributor.authorMitter, D.
dc.contributor.authorRiess, A.
dc.contributor.authorLopez-Gonzalez, V.
dc.contributor.authorZenker, M.
dc.date.accessioned2022-05-11T14:41:13Z
dc.date.available2022-05-11T14:41:13Z
dc.date.issued2016
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractPurpose: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. © 2016 American College of Medical Genetics and Genomics.
dc.identifier.doi10.1038/gim.2016.32
dc.identifier.endpage1234
dc.identifier.issn1098-3600
dc.identifier.issue12en_US
dc.identifier.pmid27101134
dc.identifier.scopus2-s2.0-85000839255
dc.identifier.scopusqualityQ1
dc.identifier.startpage1226
dc.identifier.urihttps://doi.org/10.1038/gim.2016.32
dc.identifier.urihttps://hdl.handle.net/20.500.11776/9111
dc.identifier.volume18
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Hatip
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.ispartofGenetics in Medicine
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjecthypertrophic cardiomyopathy
dc.subjectNoonan syndrome
dc.subjectoncogenic mutations
dc.subjectRAS-MAPK signaling pathway
dc.subjectRASopathies
dc.subjectadolescent
dc.subjectadult
dc.subjectArticle
dc.subjectchild
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectcodon
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjectgenetic variability
dc.subjectgenotype phenotype correlation
dc.subjectgermline mutation
dc.subjecthuman
dc.subjecthypertrophic cardiomyopathy
dc.subjectinfant
dc.subjectlymphatic system disease
dc.subjectmale
dc.subjectmiddle aged
dc.subjectmissense mutation
dc.subjectNoonan syndrome
dc.subjectpreschool child
dc.subjectRIT1 gene
dc.subjectschool child
dc.subjectcongenital heart malformation
dc.subjectgenetic association study
dc.subjectgenetics
dc.subjectgenotype
dc.subjectNoonan syndrome
dc.subjectpathology
dc.subjectpedigree
dc.subjectphenotype
dc.subjectRas protein
dc.subjectRIT1 protein, human
dc.subjectCardiomyopathy, Hypertrophic
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectGenotype
dc.subjectGerm-Line Mutation
dc.subjectHeart Defects, Congenital
dc.subjectHumans
dc.subjectMale
dc.subjectNoonan Syndrome
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectras Proteins
dc.titleGenotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
dc.typeArticle

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