Fragile X syndrome and fragile X-associated disorders
نویسندگان
چکیده
منابع مشابه
Fragile 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 ...
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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...
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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...
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The fragile X mental retardation 1 gene (FMR1), which codes for the fragile X mental retardation 1 protein (FMRP), is located at Xp27.3. The normal allele of the FMR1 gene typically has 5 to 40 CGG repeats in the 5' untranslated region; abnormal alleles of dynamic mutations include the full mutation (> 200 CGG repeats), premutation (55-200 CGG repeats) and the gray zone mutation (45-54 CGG repe...
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ژورنال
عنوان ژورنال: F1000Research
سال: 2017
ISSN: 2046-1402
DOI: 10.12688/f1000research.11885.1