© 1995 Oxford University Press
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
Department of Clinical Genetics, Erasmus University PO Box 1738. 3000 DR Rotterdam, The Netherlands 1 Unité de Rechercheen Génétique Humaine et Moléculaire, Hôpital St-Francois-d'Assise and Department of Biochemistry Laval University Quebec, Canada 2 University of Antwerp Antwerp, Belgium 3 University of Nijmegen Nijmegen, The Netherlands
*To whom correspondence should be addressed
Received September 15, 1994; Accepted October 11, 1994
The fragile X syndrome is the most frequent cause of inherited mental retardation. The molecular mechanism of the disorder is based on the expansion of a CGG repeat in the 5' UTR of the FMR1 gene In the majority of fragile X patients. The instability of this CGG repeat containing region is not restricted to the CGG repeat Itself but expands to the flanking region as well. We describe four unrelated fragile X patients that are mosaic for both a full mutation and a small deletion in the CGG repeat containing region. Sequence analysis of the regions surrounding the deletions showed that both the (CGG)n repeat and some flanking sequences were missing in all four patients. The 5' breakpoints of the deletions were found to be located between 75–53 bp proximal to the CGG repeat. This suggests the presence of a hot spot region for deletions in the CGG repeat region of the FMR1 gene and emphasizes the instability of this region In the presence of an expanded CGG repeat.
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