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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

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Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeﾖphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ﾖ separating typicality of presentation, outcome severity and age of onset ﾖ and by classifyingﾠMECP2ﾠmutations strictly by predicted functional attributes.ﾠMECP2ﾠmutation screening results were available on 190 patients with a clinical … Read more

Double dose against rare diseases

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Reference: Abstract: Recently, two teams from CNRS have reported encouraging results in the fight against two rare diseases: “children of the moon” and Rett syndrome. PROJECT DETAILS  beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: National Center for Scientific Research Financing: NATIONAL FUNDINGS – 0 € hyperlink

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

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Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

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Reference: Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not … Read more

Challenges of the use of next generation sequencing in clinical context: study in Rett syndrome and related neurodevelopmental phenotypes

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Reference: HMSP-ICS/0017/2011 Abstract: n.a PROJECT DETAILS  beginning: 2011. end: n.a Country of research: Portugal Counry of funding source: United States Funding organization: Framework of the Cooperation Agreement between Portugal and Harvard Medical School – 2011 Financing: NATIONAL FUNDINGS – 0 € hyperlink

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