Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

@article{Longo2004ThreeRP,
  title={Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements},
  author={Ilaria Longo and Luisa Russo and Ilaria Meloni and Iolanda Ricci and Francesca Ariani and Chiara Pescucci and Carmela Giordano and Roberto Canitano and Giuseppe Hayek and Michele Zappella and Giovanni Neri and Alessandra Renieri and Fiorella Gurrieri},
  journal={European Journal of Human Genetics},
  year={2004},
  volume={12},
  pages={682-685}
}
Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11–q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this… 
A Rett Syndrome Case with Mutation in MECP2 and Deletion of 16p11.2
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TLDR
A role for MeCP2 in chromosome organization in the developing brain is suggested and a potential mechanistic association between several related neurodevelopmental disorders is provided.
15 q 11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABAA receptor subunit (GABR) genes—GABRB3, GABRA5 and GABRG3. Deletion or duplication of
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TLDR
Chromatin immunoprecipitation and bisulfite sequencing in SH-SY5Y neuroblastoma cells demonstrated that MeCP2 binds to methylated CpG sites within GABRB3.
SINDROME DE RETT: 50 AÑOS DE HISTORIA DE UN TRASTORNO AUN NO BIEN CONOCIDO
TLDR
Neuroimaging, neuropathological and biochemical findings in RS are reviewed, and some perspectives in the treatment of RS have been provided by a recent work showing a phenotypic reversal by activation of MeCP2 expression in a mouse model.
Toward a developmental neurobiology of autism.
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  • Biology, Medicine
    Mental retardation and developmental disabilities research reviews
  • 2004
TLDR
Current understanding of the developmental mechanisms patterning the balance between excitation and inhibition in the context of the neurobiology of autism is reviewed.
Planning studies of etiology
Knowledge of the environmental and genetic etiologies of complex cognitive disorders can guide strategies for diagnosis, prevention, and therapy, but disentangling the various causes can be very
C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.
TLDR
It is concluded that PWRN1 and C15orf2 may play a role in PWS, where both genes are expressed in testis and kidney but monoallelically in fetal brain.
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