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2005•Unpublished venueRequires access

Fragile X Syndrome

David L. Nelson, Mikiko C. Siomi

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Abstract

Abstract Fragile X syndrome was first recognized in 1943 by Martin and Bell as an X-linked form of mental retardation. The discovery in 1969 that affected males exhibit a fragile site at Xq27.3 was followed by the characterization of this site in the 1970s. The locus containing the genetic lesion that produces the fragile site was isolated in 1991, when it was found that an unstable trinucleotide repeat was massively expanded in fragile X chromosomes. The expanded repeat inhibits expression of the FMR1 gene, and loss of function of this gene is the primary cause of fragile X syndrome. While some attempts have been made to improve patients’ outcomes with alterations in nutrition, there is currently no treatment that is widely viewed as effective (Fig. 56–1).

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What this paper is about

Abstract Fragile X syndrome was first recognized in 1943 by Martin and Bell as an X-linked form of mental retardation. The discovery in 1969 that affected males exhibit a fragile site at Xq27.3 was followed by the characterization of this site in the 1970s. The locus containing the genetic lesion that produces the fragile site was isolated in 1991, when it was found that an unstable trinucleotide repeat was massively expanded in fragile X chromosomes. The expanded repeat inhibits expression of the FMR1 gene, and loss of function of this gene is the primary cause of fragile X syndrome. While some attempts have been made to improve patients’ outcomes with alterations in nutrition, there is currently no treatment that is widely viewed as effective (Fig. 56–1).

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Available abstract

Abstract Fragile X syndrome was first recognized in 1943 by Martin and Bell as an X-linked form of mental retardation. The discovery in 1969 that affected males exhibit a fragile site at Xq27.3 was followed by the characterization of this site in the 1970s. The locus containing the genetic lesion that produces the fragile site was isolated in 1991, when it was found that an unstable trinucleotide repeat was massively expanded in fragile X chromosomes. The expanded repeat inhibits expression of the FMR1 gene, and loss of function of this gene is the primary cause of fragile X syndrome. While some attempts have been made to improve patients’ outcomes with alterations in nutrition, there is currently no treatment that is widely viewed as effective (Fig. 56–1).

Key concepts: Chromosomal fragile site, Fragile X syndrome, Locus (genetics), Fragile x, Genetics, FMR1, Trinucleotide repeat expansion, X chromosome

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