The authors declare that they have no conflict of interest.
PLP1 gene analysis in 88 patients with leukodystrophy
Version of Record online: 11 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 6, pages 566–571, December 2013
How to Cite
PLP1 gene analysis in 88 patients with leukodystrophy., , , , , , , , , , , .
- Issue online: 28 OCT 2013
- Version of Record online: 11 MAR 2013
- Accepted manuscript online: 25 JAN 2013 01:43AM EST
- Manuscript Revised: 16 JAN 2013
- Manuscript Accepted: 16 JAN 2013
- Manuscript Received: 20 NOV 2012
- Hospital Universitario La Paz
- Comunidad Autónoma de Madrid
- array- CGH;
- Pelizaeus–Merzbacher disease;
- PLP1 mutations
Pelizaeus–Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array-CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.