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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
- H. Van Esch, M. Bauters, G. Froyen
- Biology, MedicineAmerican journal of human genetics
- 1 September 2005
It is demonstrated that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype, which justifies quantitative screening of MECP2 in this group of patients.
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
The results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase, which is known to affect cell migration and outgrowth of axons and dendrites in vivo.
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
The distribution of genotypes, classified according to the expected effect of their mutations on CFTR protein, clearly differed between both populations, and showed a clear geographical and/or ethnic variation in the distribution of the most common CF mutations.
Key clinical features to identify girls with CDKL5 mutations.
- N. Bahi-Buisson, J. Nectoux, T. Bienvenu
- Biology, MedicineBrain : a journal of neurology
- 1 October 2008
It is shown that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and inGirls with RTT-like phenotype and early onset seizures, though, in this cohort, mutations in CDsL5 account for about 10% of the girls affected by these disorders.
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
It is demonstrated here the importance of interleukin signalling pathways in cognitive function and the normal physiology of the CNS and the identification of a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation.
MECP2 mutations account for most cases of typical forms of Rett syndrome.
It is shown that MECP2 mutations account for most cases of typical forms of RTT (65%) and mutations in non-coding regions cannot be excluded for the remaining cases, and an alternative hypothesis that takes into account the homogeneous phenotype and exclusive involvement of females, could be the implication in RTT of a putative second X-linked gene.
The three stages of epilepsy in patients with CDKL5 mutations
Mutations in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy. So far, the electroclinical phenotype remains largely unknown…
Genetics and pathophysiology of mental retardation
- J. Chelly, M. Khelfaoui, F. Francis, B. Chérif, T. Bienvenu
- Biology, MedicineEuropean Journal of Human Genetics
- 1 June 2006
An overview on the remarkable progress achieved over the last decade in delineating genetic causes of MR is provided, and the emerging biological and cellular processes and pathways underlying pathogeneses of human cognitive disorders are highlighted.
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Retrospective examination of MR images suggests that patients with TUBA1A mutations share not only cortical dysgenesis, but also cerebellar, hippocampal, corpus callosum, and brainstem abnormalities, and highlights the importance of the MTs/DCX complex in the neuronal migration process.