Author:
Hagerman Randi J.,Staley Louise W.,O'Conner Rebecca,Lugenbeel Kellie,Nelson David,McLean Scott D.,Taylor Annette
Abstract
There is a broad spectrum of clinical involvement in both boys and girls affected by fragile X syndrome. Although this disorder is best known as the most common inherited cause of mental retardation, it also can manifest as learning disabilities in individuals with IQs in the broad range of normal. Boys are usually retarded, and girls are usually learning disabled with fragile X syndrome.1 The responsible gene, fragile X mental retardation 1 (FMR1), was isolated in 1991, and the mutation was found to involve expansion of a trinucleotide (CGG) repeat segment. Individuals with fragile X syndrome have a CGG expansion of more than 200 repeats associated with hypermethylation of both the expansion and an adjacent CpG island (full mutation).2,3
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology, and Child Health
Cited by
8 articles.
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