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

K. Kouz, C. Lissewski, S. Spranger, D. Mitter, A. Riess, V. Lopez-Gonzalez, S. Lüttgen, H. Aydin, F. von Deimling, C. Evers, A. Hahn, M. Hempel, U. Issa, AK. Kahlert, A. Lieb, P. Villavicencio-Lorini, MJ. Ballesta-Martinez, S. Nampoothiri, A....

. 2016 ; 18 (12) : 1226-1234. [pub] 20160421

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc17031778

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.Genet Med 18 12, 1226-1234.

Darmstädter Kinderkliniken University Hospital Frankfurt Frankfurt Germany

Department of Biology and Medical Genetics Charles University 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic

Department of Child Neurology Justus Liebig University Giessen Germany

Department of Medical Genetics Medical Faculty Namık Kemal University Tekirdag Turkey

Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Centre Cochin India

Facharztzentrum Pädiatrie und Humangenetik Martin Luther Universität Halle Wittenberg Halle Germany

Institut für Humangenetik Klinikum rechts der Isar Technische Universität München München Germany

Institut für Klinische Genetik TU Dresden Dresden Germany Department for Congenital Heart Disease and Pediatric Cardiology University Hospital of Schleswig Holstein Kiel Germany

Institute of Human Genetics Heidelberg University Heidelberg Germany

Institute of Human Genetics Ludwig Maximilian University Munich Germany

Institute of Human Genetics Martin Luther University Halle Wittenberg Halle Germany

Institute of Human Genetics University Hospital Leipzig Leipzig Germany

Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany

Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany Centre for Pediatric and Adolescent Medicine University Hospital Freiburg Freiburg Germany

Institute of Human Genetics University Medical Center Hamburg Eppendorf Hamburg Germany

Institute of Medical Genetics and Applied Genomics University of Tuebingen Tuebingen Germany

Praxis für Humangenetik Bremen Germany

Praxis für Humangenetik München Germany

Praxis für Kinder und Jugendmedizin Volkach Germany

Sección de Genética Médica Servicio de Pediatría Hospital Clínico Universitario Virgen de la Arrixaca IMIB Arrixaca Murcia Spain Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid Spain

Sozialpädiatrisches Zentrum Coburg Coburg Germany

Citace poskytuje Crossref.org

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