Hum Mutat 2014 Nov 11;35(11):1290-4. Epub 2014 Sep 11.
Division of Medical Genetics and Genomic Medicine, Vanderbilt University, Nashville, Tennessee.
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Am J Med Genet A 2016 Sep 5;170(9):2237-47. Epub 2016 Jun 5.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. Read More
Am J Med Genet A 2013 Oct 5;161A(10):2420-30. Epub 2013 Aug 5.
Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware.
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal abnormalities, and learning differences. The phenotype is variable, and limited genotype phenotype correlation exists with SOS1 mutations often associated with normal cognition and stature, RAF1 mutations entailing a high HCM risk, and certain PTPN11 mutations predisposing to juvenile myelomonocytic leukemia. The recently identified SHOC2 mutation (p. Read More
J Cell Sci 2015 Dec 30;128(23):4428-41. Epub 2015 Oct 30.
Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY 40536, USA
The scaffold protein Shoc2 accelerates activity of the ERK1 and ERK2 (ERK1/2, also known as MAPK3 and MAPK1) pathway. Mutations in Shoc2 result in Noonan-like RASopathy, a developmental disorder with a wide spectrum of symptoms. The amplitude of the ERK1/2 signals transduced through the complex is fine-tuned by the HUWE1-mediated ubiquitylation of Shoc2 and its signaling partner RAF-1. Read More
Clin Genet 2013 Feb 9;83(2):181-6. Epub 2012 Apr 9.
Pediatric Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
The 'RASopathies' are a group of disorders sharing many clinical features and a common pathophysiology. In this study, we aimed to clinically evaluate a group of Turkish patients and elucidate the underlying genetic etiology. Thirty-one patients with a clinical diagnosis of one of the RASopathy syndromes were included in the study. Read More