Rett syndrome: a neurodevelopmental disorder
نویسندگان
چکیده
منابع مشابه
Rett syndrome: a prototypical neurodevelopmental disorder.
Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...
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Neurodevelopmental disorders, sometimes referred to as disorders of intellectual disability (ID), are a large family of conditions of genetic, acquired, or environmental origin that are characterized by deficiencies in cognitive and behavioral functions. While many of these dis‐ orders share similar behavioral phenotypes, they are often accompanied with other features specific to each disorder....
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PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...
متن کاملRett syndrome and long-term disorder profile.
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133...
متن کاملRett syndrome: a neurological disorder with metabolic components
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator. Despite remarkable scientific progress since its discovery, the mechanism by which MECP2 mutations cause RTT symptoms is largely unknown. Consequently, treatment options for patients are currently limited and centred on...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2019
ISSN: 2349-3291,2349-3283
DOI: 10.18203/2349-3291.ijcp20192790