New clinical and molecular insights into Silver–Russell syndrome
| Autor: | Frédéric Brioude, Eloïse Giabicani, Irène Netchine |
|---|---|
| Přispěvatelé: | Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
MESH: Abnormalities Multiple Genetic counseling education MEDLINE Genetic Counseling Bioinformatics MESH: Phenotype MESH: Insulin-Like Growth Factor II Genomic Imprinting 03 medical and health sciences MESH: DNA Methylation MESH: Practice Guidelines as Topic Insulin-Like Growth Factor II Genotype parasitic diseases medicine Humans Abnormalities Multiple Insulin-like growth factor-II [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics MESH: Humans business.industry Silver–Russell syndrome DNA Methylation [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism medicine.disease Phenotype 3. Good health MESH: Genomic Imprinting Silver-Russell Syndrome 030104 developmental biology MESH: Silver-Russell Syndrome Practice Guidelines as Topic Pediatrics Perinatology and Child Health DNA methylation MESH: Genetic Counseling Genomic imprinting business |
| Zdroj: | Current Opinion in Pediatrics Current Opinion in Pediatrics, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩ Current Opinion in Pediatrics, Lippincott, Williams & Wilkins, 2016, 28 (4), pp.529-535. ⟨10.1097/MOP.0000000000000379⟩ |
| ISSN: | 1040-8703 |
| DOI: | 10.1097/MOP.0000000000000379⟩ |
| Popis: | The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS).Various teams have described the clinical characteristics of SRS patients by genotype. A clinical score for the definition of SRS and for orienting molecular investigations has emerged. Insulin-like growth factor 2 (a major fetal growth factor) has been implicated in the pathophysiology of SRS, as the principle molecular mechanism underlying the disease is loss of methylation of the 11p15 region, including the imprinted insulin-like growth factor 2 gene. Maternal uniparental disomy of chromosome 7 and recently identified rare molecular defects have also been reported in patients with SRS. However, 40% of patients still have no molecular diagnosis.The definition of SRS has remained clinical since the first description of this condition, despite the identification of various molecular causes. The clinical issues faced by these patients are similar to those faced by other patients born small for gestational age (SGA), but patients with SRS require specific multidisciplinary management of their nutrition, growth, and metabolism, as they usually present an extreme form of SGA. Molecular analyses can confirm SRS, and are of particular importance for genetic counseling and prenatal testing. |
| Databáze: | OpenAIRE |
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