Fragile X syndrome is not only the most common form of inherited cognitive impairment, it is also one of the most frequent single gene disorders. It is caused by a stretch of CGG-repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no fragile X protein is produced and disease results. Since the mutation was discovered, nearly a decade of research has revealed a wealth of information regarding the fragile X gene and its possible function within the cell. The fragile X story also provides a sobering example of how much time and effort might be necessary to develop beneficial treatment through understanding gene function.

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Persistent URL dx.doi.org/10.1016/S1357-4310(00)01674-9, hdl.handle.net/1765/54694
Journal Molecular Medicine Today
Citation
Kooy, R.F, Willemsen, R, & Oostra, B.A. (2000). Fragile X syndrome at the turn of the century. Molecular Medicine Today (Vol. 6, pp. 193–198). doi:10.1016/S1357-4310(00)01674-9