Reference:
ORPHA319013
Abstract:
Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women unspecific mental retardation, and autism and severe encephalopathies SR in males. In addition there are cases that meet essential criteria and / or support for SR, have no mutation in the MECP2 gene. From a clinical point of view, it described an overlap between the clinical features of SR and other neonatal encephalopathy of unknown etiology such as those with epilepsy and those involving hypotonia, microcephaly and generally different pervasive developmental disorders. It is not easy therefore to clarify the molecular basis of these complex developmental disorders, often associated with a dramatic clinical picture debut in very early stages of life. Objectives: We intend to further characterize the genetic etiology of this wide spectrum of diseases, implementing new molecular tools, in particular the analysis and study of genes: MeCP2 (Methyl-CpG-binding-Protein2) CDKL5 (Cyclin Dependent Kinase-Like 5), FOXG1 (forhead box G1) ARX (Aristaless-Related homeobox X-linked), CNTNAP2 (Contactin-Associated Protein-like 2) and TCF4 (Transcription factor 4). Also, we study the possible deletion / submicroscopic genome duplications by MLPA and CGH-arrays. Orphanet Database. Research Project – 1/2013 http://www.orpha.net/data/prj/ES/ID96181ES.pdf . Diseases related to the project: Rett syndrome; autism; severe neonatal encephalopathy; epileptic encephalopathy (early childhood); Pitt-Hopkins syndrome; mental retardation with stereotypes, with or without epilepsy.
PROJECT DETAILS
beginning: n.a
end: n.a
Country of research: Spain
Counry of funding source: Spain
Funding organization: Gobierno Vasco Departmento de sanidad y consumo
Financing: NATIONAL FUNDINGS – 0 €