Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

  title={Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication},
  author={Christine R. Beck and Cl{\'a}udia M B Carvalho and Linda Banser and Tomasz Gambin and Danielle Stubbolo and Bo Yuan and Karen Sperle and Suzanne M. McCahan and Marco Henneke and Pavel Seeman and James Y. Garbern and Grace M. Hobson and James R Lupski},
  booktitle={PLoS genetics},
Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM#300260) and Pelizaeus-Merzbacher disease (PMD, MIM#312080). We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific… CONTINUE READING
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