hrp0089p2-p206 | GH & IGFs P2 | ESPE2018

Identification of Three Novel GLI2 Gene Variants Associated with Hypopituitarism

Castro-Feijoo Lidia , Cabanas Paloma , Barreiro Jesus , Silva Paula , Couce M Luz , Pombo Manuel , Loidi Lourdes

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

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...

hrp0086p1-p799 | Syndromes: Mechanisms and Management P1 | ESPE2016

NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families

Castro-Feijoo Lidia , Barreiro Jesus , Guillen-Navarro Encarna , Journel Hubert , Wakeling Emma , Jagadeesh Sujatha , LeMerrer Martine , Silva Paula , Cabanas Paloma , Pombo Manuel , Loidi Lourdes

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

hrp0095p1-318 | Growth and Syndromes | ESPE2022

The molecular study of Ras/MAPK pathway and treatment of short stature in Noonan syndrome

Castro-Feijóo Lidia , Cabanas Rodríguez Paloma , E Heredia Ramírez Claudia , Martínez Isabel , López Abel Bernardo , Eiris Puñal Jesús , Barros Angueira Francisco , Loidi Lourdes , Barreiro Conde Jesús

Mutations in genes of the RAS/MAPK signalling pathway have been shown to cause several syndromes characterized by dysmorphic features, growth retardation, cognitive impairment, heart disease and cutaneous abnormalities. The GHrh treatment has been used to improve growth in children with Noonan syndrome.Material and methods: 201 cases of patients referred with clinical suspicion of S. Noonan and other RASopathies was studied. Analysis of ...