منابع مشابه
A fragile balance: FMR1 expression levels.
The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein. The FMR1 protein is proposed to act as a regulator of mRNA transport...
متن کاملFrontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression.
Fragile X syndrome (fraX) is the most common known cause of inherited developmental disability. fraX is associated with a CGG expansion in the FMR1 gene on the long arm of the X chromosome. Behavioral deficits, including problems with impulse control and distractibility, are common in fraX. We used functional brain imaging with a Go/NoGo task to examine the neural substrates of response inhibit...
متن کاملFragile X syndrome with FMR1 and FMR2 deletion.
We report a 13 year old boy with fragile X syndrome resulting from a de novo deletion of the FMR1 and FMR2 genes extending from (and including) DXS7536 proximally to FMR2 distally. The patient has severe developmental delay, epilepsy, and behavioural difficulties, including autistic features. He has epicanthic folds, in addition to facial features typical of fragile X syndrome, and marked joint...
متن کاملReevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome
Fragile X syndrome (FXS) is one of the most common heritable forms of cognitive impairment. It results from a fragile X mental retardation protein (FMRP) protein deficiency caused by a CGG repeat expansion in the 5'-UTR of the X-linked FMR1 gene. Whereas in most individuals the number of CGGs is steady and ranges between 5 and 44 units, in patients it becomes extensively unstable and expands to...
متن کاملGenetic Testing for FMR1 Mutations (Including Fragile X Syndrome)
Patient Selection Criteria Coverage eligibility will be considered for fragile X mental retardation 1 (FMR1) mutations the following patient populations: Individuals of either sex with intellectual disability, developmental delay, or autism spectrum disorder (see Policy Guidelines ◊ ). Prenatal testing of fetuses of known carrier mothers (see Policy Guidelines ◊ ). Affected individuals or...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddg298