Nature 376, 145 - 149 (13 July 2002); doi:10.1038/376145a0

Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

C. Jones^*†, L. Penny^‡, T. Mattina^¶, S. Yu ^§, E. Baker^§, L. Voullaire^**, W. Y. Langdon^††, G. R. Sutherland^§, R. I. Richards^§ & A. Tunnacliffe^*‡‡

^†Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK
^‡Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, California 92093, USA
^¶Clinica Pediatrica, I Universita di Catania, viale Andrea Doria, 6, Catania, Sicily, Italy
^§Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia
^**Murdoch Institute, 10th Floor Royal Children's Hospital, Flemington Road, Melbourne, Victoria 3052, Australia
^††Department of Biochemistry, University of Western Australia, Nedlands, West Australia 6009, Australia
^‡‡Quadrant Research Foundation, Maris Lane, Trumpington, Cambridge CB2 2SY, UK

The fragile site FRA11B has been localized to the p(CCG)_n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q^-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)_n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)_n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

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