hrp0082p2-d1-452 | Growth | ESPE2014

Rasopathies: Assessment of Growth, Genetic Study, Genotype–Phenotype Correlation and Therapeutic Response to GH in Noonan Syndrome

Heredia Claudia , Barros Francisco , Castro-Feijoo Lidia , Conde Jesus Barreiro , Rodriguez Paloma Cabanas , Arias Manuel Pombo

Background: Rasopathies are a heterogeneous group of diseases that share phenotypic characteristics such as facial dysmorphism, congenital heart disease and short stature.Objective and hypotheses: Evaluation of growth and study of the GH–IGF1 axis. Molecular Study of the PTPN11, SOS1, RAF, KRAS, NRAS, MAP2K1 and MAP2K2 genes. Evaluation of growth and study of the GH–IGF1 axis.Method: Descriptive retrospective study in pat...

hrp0082p1-d3-50 | Bone (1) | ESPE2014

Genetic Study of Osteogenesis Imperfecta: Two Novel Mutations in COL1A1 and COL1A2

Castro-Feijoo Lidia , Loidi Lourdes , Quiroga Nuria , Cabanas Paloma , Heredia Claudia , Leis Rosaura , Barros Francisco , Pombo Manuel , Barreiro Jesus

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous rare disorder characterized by variable symptoms including predisposition to fractures. OI has been associated with mutations affecting the synthesis of type I collagen. However, the new technologies have permitted the identification of other responsible genes which are in the collagen metabolic pathway, while others are not.Objective: Characterize the genotype of pati...