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Human Molecular Genetics, 2001, Vol. 10, No. 13 1387-1392
© 2001 Oxford University Press

Recombination hotspot in NF1 microdeletion patients

Catalina López-Correa, Michael Dorschner1, Hilde Brems, Conxi Lázaro2, Maurizio Clementi3, Meena Upadhyaya4, Dennis Dooijes5, Ute Moog6, Hildegard Kehrer-Sawatzki7, J. Lynn Rutkowski8, Jean-Pierre Fryns, Peter Marynen, Karen Stephens1,9 and Eric Legius+

Center for Human Genetics, Catholic University Leuven, Herestraat 49, B-3000 Leuven, Belgium, 1Department of Medicine, University of Washington, Medical Genetics, Seattle, WA, USA, 2Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, Barcelona, Spain, 3Servizio di Genetica Medica, Universita di Padova, Padova, Italy, 4Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK, 5Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands, 6Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands, 7Department of Human Genetics, University of Ulm, Ulm, Germany, 8Departments of Neurology and Pediatrics, University of Pennsylvania, Philadelphia, PA, USA and 9Department of Laboratory Medicine, University of Washington, Seattle, WA, USA

Neurofibromatosis type 1 (NF1) patients that are heterozygous for an NF1 microdeletion are remarkable for an early age at onset and an excessive burden of dermal neurofibromas. Microdeletions are predominantly maternal in origin and arise by unequal crossover between misaligned NF1REP paralogous sequence blocks which flank the NF1 gene. We mapped and sequenced the breakpoints in several patients and designed primers within each paralog to specifically amplify a 3.4 kb deletion junction fragment. This assay amplified a deletion junction fragment from 25 of the 54 unrelated NF1 microdeletion patients screened. Sequence analysis demonstrated that each of the 25 recombination events occurred in a discrete 2 kb recombination hotspot within each of the flanking NF1REPs. Two recombination events were accompanied by apparent gene conversion. A search for recombination-prone motifs revealed a {chi}-like sequence; however, it is unknown whether this element stimulates recombination to occur at the hotspot. The deletion-junction assay will facilitate the prospective identification of patients with NF1 microdeletion at this hotspot for genotype–phenotype correlation studies and diagnostic evaluation.

+ To whom correspondence should be addressed. Tel: +32 16 345903; Fax: +32 16 346051; Email: Eric.Legius@med.kuleuven.ac.be


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