Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.

@article{Aradhya2001MultiplePA,
  title={Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.},
  author={Swaroop Aradhya and Tiziana Bardaro and Petra Galg{\'o}czy and Tetsushi Yamagata and Teresa Esposito and H Patlan and Alfredo Ciccodicola and Arnold Munnich and Sue J Kenwrick and Matthias Platzer and Michele D'Urso and David L. G. Nelson},
  journal={Human molecular genetics},
  year={2001},
  volume={10 22},
  pages={2557-67}
}
The X-linked dominant and male-lethal disorder incontinentia pigmenti (IP) is caused by mutations in a gene called NEMO (IKK-gamma). We recently reported the structure of NEMO and demonstrated that most IP patients carry an identical deletion that arises due to misalignment between repeats. Affected male abortuses with the IP deletion had provided clues that a second, incomplete copy of NEMO was present in the genome. We have now identified clones containing this truncated copy (Delta NEMO) and… CONTINUE READING

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