Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency
نویسندگان
چکیده
منابع مشابه
Homicide, fragile X syndrome, and mental retardation.
Persons with mental retardation represent 1 to 2% of the worldwide population. Due to their suggestive behavior and ingenuousness, these persons tend to be vulnerable to violence in all its forms. Nevertheless, difficulties concerning impulse control and lack of judgment contribute to disruptive and maladaptive behaviors in some of them. These misbehaviors may include sexual violence, thefts, p...
متن کاملFragile X syndrome and fragile X-associated disorders
Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A ...
متن کاملEarly Onset of Fragile X Associated Tremor and Ataxia Syndrome: A Case Report from Iran
Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
متن کاملFragile X syndrome and associated disorders.
The past decades have witnessed staggering advances in the fields of molecular genetics, cognitive neuroscience, neuropsychiatry, and brain imaging. Collectively, these findings have pushed forward a new generation of research aimed at exploring the dynamic interplay between gene expression, developmental brain pathways, and neurocognitive profiles beginning in infancy and moving across the lif...
متن کاملFragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene.
F ragile X–associated tremor/ataxia syndrome (FXTAS) is a late-adult–onset neurodegenerative disorder affecting primarily male (and occasionally female) carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1). FXTAS is principally characterized as a movement disorder with progressive intention tremor and gait ataxia, with more variable associat...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.55