Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
| Autor: | Michelle Bianchi de Moraes, Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Natalia Torres, Elisangela P S Quedas, Alexsandra C. Malaquias, R.M. Noronha, Débora Romeo Bertola, Sandra M.F. Villares, Mariana F A Funari, Thais Kataoka Homma |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Genotype medicine.medical_treatment Protein Tyrosine Phosphatase Non-Receptor Type 11 030105 genetics & heredity Carbohydrate metabolism Impaired glucose tolerance 03 medical and health sciences chemistry.chemical_compound Young Adult Internal medicine Genetics medicine Humans Young adult Genetics (clinical) Genetic Association Studies Aged Triglyceride business.industry Cholesterol Insulin Noonan Syndrome Middle Aged medicine.disease Prognosis PTPN11 030104 developmental biology Endocrinology Cross-Sectional Studies Phenotype chemistry Mutation Metabolome Noonan syndrome Female business Follow-Up Studies |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 185(3) |
| ISSN: | 1552-4833 |
| Popis: | Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition. This study aimed at characterizing glucose and lipid profiles in patients with NS/NRD. We assessed fasting blood glucose, insulin, cholesterol (total and fractions), and triglyceride (TG) levels in 112 prepubertal children and 73 adults. Additionally, an oral glucose tolerance test (OGTT) was performed in 40 children and 54 adults. Data were analyzed between age groups according to the presence (+) or absence (-) of PTPN11 mutation. Prepubertal patients with NS/NRD were also compared with a control group. Despite the lean phenotype of children with NS/NRD, they presented an increased frequency of low HDL-cholesterol (63% in PTPN11+, 59% in PTPN11- and 16% in control, p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text