PEDIATRICS Vol. 97 No. 1 January 1996, pp. 122-126
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Learning-disabled Males With a Fragile X CGG Expansion in the Upper Premutation Size Range

Randi J. Hagerman MD1, Louise W. Staley MS1, Rebecca O'Conner MA1, Kellie Lugenbeel BS2, David Nelson PhD2, Scott D. McLean MD3, and Annette Taylor MS, PhD4

1 Child Development Unit, The Children's Hospital, Denver, CO
2 Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX
3 Department of Pediatrics, William Beaumont Army Medical Center, El Paso, TX
4 Molecular Diagnostic Laboratory, Kimball Genetics, Inc, Denver, CO

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

Submitted on October 10, 1994
Accepted on January 30, 1995




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