Fragile X functions

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 ...

Fragile X/Cancer Cytogenetics

To begin with, Human Pharmacology is a moderately priced book that makes no pretense to be as encyclopedic as Goodman and Gilman. One of the main advantages of the book is its consistency of presentation. Each chapter is presented in five sections: (1) therapeutic overview; (2) mechanisms of action; (3) pharmacokinetics; (4) relation of mechanisms of action to clinical response; and (5) side ef...

Fragile X spectrum disorders.

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...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.