Am J Med Genet A 2014 Aug 9;164A(8):2036-42. Epub 2014 Apr 9.
Department of Pediatrics, University of Hawaii, Honolulu, Hawaii.
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Am J Med Genet A 2014 Nov 22;164A(11):2814-21. Epub 2014 Sep 22.
Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.
The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. Read More
Am J Med Genet A 2015 Feb 8;167A(2):385-8. Epub 2014 Dec 8.
Intergen Genetics Centre, Ankara, Turkey.
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder belonging to the group of RASopathies. It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC syndrome is caused by dominant mutations in one of the four genes BRAF, MEK1, MEK2, and KRAS. Read More
Br J Dermatol 2011 Mar 28;164(3):521-9. Epub 2011 Jan 28.
Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA.
Background: The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.
Objectives: Systematically to characterize the spectrum of dermatological findings in mutation-positive individuals with CFC syndrome. Read More
Med Clin (Barc) 2015 Jan 4;144(2):67-72. Epub 2014 Sep 4.
Centro de Investigación Biomédica en Red en enfermedades raras (CIBERER); Laboratorio Diagnóstico Molecular, Servicio de Bioquímica, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Madrid, España.
Objectives: To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome).
Patients And Methods: Clinical data from patients submitted for genetic analysis were collected. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, and MAP2K1 focused on exons carrying recurrent mutations, and of all KRAS exons were performed. Read More