title: Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.
abstract: BACKGROUND
  Noonan syndrome (NS) is an autosomal dominant syndrome characterized by typical dysmorphic features, cardiac anomalies as well as postnatal growth retardation, and is associated with Ras-MAPK pathway gene mutations. The purpose of this study was to improve the diagnosis of Chilean patients with suspected NS through molecular analysis.
  
  
  METHODS
  We screened 18 Chilean patients with a clinical diagnosis of NS for mutations in PTPN11 by high resolution melting (HRM) and subsequent sequencing.
  
  
  RESULTS
  Three PTPN11 missense mutations were detected in 22% of analyzed patients. Of these, two (c.181G>A and c.1510A>G) were previously reported and one was the novel substitution c.328G>A (p.E110K) affecting the linker stretch between the N-SH2 and C-SH2 domains of SHP-2 protein.
  
  
  CONCLUSIONS
  Molecular studies confirmed the clinical diagnosis of NS in 4 of 18 patients, which provided support for therapeutic decisions and improved genetic counseling for their families.
authors.forename: Fernando A
authors.initials: FA
authors.lastname: Rodríguez
authors.forename: Nancy
authors.initials: N
authors.lastname: Unanue
authors.forename: María Isabel
authors.initials: MI
authors.lastname: Hernández
authors.forename: Karen E
authors.initials: KE
authors.lastname: Heath
authors.forename: Fernando
authors.initials: F
authors.lastname: Cassorla
mesh_terms: D002648:Child; D002677:Chile; D005091:Exons; D006801:Humans; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11