title: [Clinical and molecular study of the Noonan syndrome].
abstract: Noonan syndrome is a relatively common autosomal dominant entity, clinically variable and genetically heterogeneous; characterized by postnatally reduced growth, distinctive facial dysmorphism, cardiac defects and variable cognitive deficits. The PTPN11 gene is located on the long arm of chromosome 12 and is primarily responsible for the clinically diagnosed cases of this entity. We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A). Several clinical features and the genetic alterations associated with this mutation are discussed.
authors.affiliation: Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela. francocammarata19@gmail.com
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Pomponi
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mancano
authors.forename: Gloria
authors.initials: G
authors.lastname: Da Silva
authors.forename: Andrea
authors.initials: A
authors.lastname: Avendaño
authors.forename: María Angelina
authors.initials: MA
authors.lastname: Lacruz-Rengel
authors.forename: Frances
authors.initials: F
authors.lastname: Stock
authors.forename: Angel
authors.initials: A
authors.lastname: Sosa
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*