A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

@article{Bengesser2010ANT,
  title={A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.},
  author={Kathrin Bengesser and David N. Cooper and Katharina Steinmann and Lan Kluwe and Nadia A. Chuzhanova and Katharina Wimmer and Marcos Soares Tatagiba and Sigrid Tinschert and V Mautner and Hildegard Kehrer-Sawatzki},
  journal={Human mutation},
  year={2010},
  volume={31 6},
  pages={742-51}
}
Large microdeletions encompassing the neurofibromatosis type-1 (NF1) gene and its flanking regions at 17q11.2 belong to the group of genomic disorders caused by aberrant recombination between segmental duplications. The most common NF1 microdeletions (type-1) span 1.4-Mb and have breakpoints located within NF1-REPs A and C, low-copy repeats (LCRs) containing LRRC37-core duplicons. We have identified a novel type of recurrent NF1 deletion mediated by nonallelic homologous recombination (NAHR… CONTINUE READING

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