title: Nutritional aspects of Noonan syndrome and Noonan-related disorders.
abstract: Rasopathies are a group of rare disorders characterized by neurocardiofaciocutaneous involvement, and caused by mutations in several genes of the RAS/MAPK pathway. In the present study, we characterized growth parameters, body composition, and nutritional aspects of children and adults (n = 62) affected by these disorders, mainly Noonan syndrome, using an indirect method-anthropometry-and a 24-hr recall questionnaire. The growth parameters in our cohort showed short stature, especially in individuals with RAF1 and SHOC2 mutations, lower obesity rates compared to the control population, and BMI scores highest in individuals with BRAF mutations and lowest in individuals with SHOC2. Body composition showed a compromise in the upper arm muscle circumference, with a statistically significant difference in the z-score of triceps skinfold (P = 0.0204) and upper arm fat area (P = 0.0388) between BRAF and SHOC2 groups and in the z-score of triceps skinfold between RAF1 and SHOC2 (P = 0.0218). The pattern of macronutrient consumption was similar to the control population. Our study is the first to address body composition in RASopathy individuals and the data indicate a compromise not only in adipose tissue, but also in muscle mass. Studies using different techniques, such as dual-energy X-ray absorptiometry or imaging studies, which give a more precise delineation of fat and non-fat mass, are required to confirm our results, ultimately causing an impact on management strategies. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Fernanda Marchetto
authors.initials: FM
authors.lastname: da Silva
authors.affiliation: Endocrinologia, LIM/25, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Alexander Augusto
authors.initials: AA
authors.lastname: Jorge
authors.affiliation: Endocrinologia, LIM/25, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Malaquias
authors.affiliation: Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Alexandre
authors.initials: A
authors.lastname: da Costa Pereira
authors.affiliation: Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Guilherme Lopes
authors.initials: GL
authors.lastname: Yamamoto
authors.affiliation: Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Debora
authors.initials: D
authors.lastname: Bertola
mesh_terms: D000328:Adult; D000886:Anthropometry; D001823:Body Composition; D002648:Child; D003430:Cross-Sectional Studies; D005247:Feeding Behavior; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D009752:Nutritional Status; D010641:Phenotype; D019908:Proto-Oncogene Proteins c-raf / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C112913:SHOC2 protein, human; D019908:Proto-Oncogene Proteins c-raf
keywords: Noonan related disorders; Noonan syndrome; RAS-MAPK pathway; anthropometry; body composition; food intake; growth