منابع مشابه
Rett syndrome and the MECP2 gene.
First described by Andreas Rett in 1966, Rett syndrome is a severe neurodevelopmental disorder which almost exclusively aVects females. A genetic aetiology was suggested by MZ twin concordance and a case of vertical transmission of the disorder. Although the prevalence is between 1 in 10 000 and 1 in 15 000 female births, >95% of cases arise de novo so the disorder has been considered to be an ...
متن کاملComplexities of Rett syndrome and MeCP2.
Rodney C. Samaco1,2 and Jeffrey L. Neul1,2,3 1Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, Texas 77030, and Departments of 2Molecular and Human Genetics, and 3Pediatrics, Neuroscience, Molecular Physiology and Biophysics, and Programs in Developmental Biology and Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas 7...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملThe relationship of Rett syndrome and MECP2 disorders to autism
Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression with loss of volitional hand use and spoken language, the development of repetitive hand stereotypies, and gait impairment. The majority of people with RTT have mutations in Methyl-CpG-binding Protein 2 (MECP2), a transcri...
متن کاملEvolving role of MeCP2 in Rett syndrome and autism.
Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 ...
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ژورنال
عنوان ژورنال: NeuroMolecular Medicine
سال: 2014
ISSN: 1535-1084,1559-1174
DOI: 10.1007/s12017-014-8295-9