SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

• Published in: Journal of medical genetics Vol. 44; no. 10; pp. 651 - 656
• Main Authors: Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth-Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen-Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars-Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.10.2007; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Amino Acid Sequence; Biological and medical sciences; Body Height; cardio-facio-cutaneous syndrome; CFCS; congenital heart defect; Constriction, Pathologic; Dbl homology–pleckstrin homology; DH-PH; Female; Fundamental and applied biological sciences. Psychology; GEF; General aspects. Genetic counseling; Genes; Genetics of eukaryotes. Biological and molecular evolution; guanine exchange factor; Heart Diseases - congenital; Heart Diseases - genetics; Heterozygote; Humans; Letter to JMG; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutation; Noonan syndrome; Noonan Syndrome - genetics; OMIM; Online Mendelian Inheritance in Man; Patients; Polymorphism; Proteins; pulmonic stenosis; ras Guanine Nucleotide Exchange Factors - metabolism; ras pathway; Sequence Homology, Amino Acid; short stature; Skin Diseases - genetics; SOS1 Protein - genetics; SOS1 Protein - physiology; Syndrome; Germany; Human; Skin disease; Cardio facio cutaneous syndrome; Nitric oxide; Cardiovascular disease; Genetics; Major gene

Background: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange f...