Premium
PLP1 gene analysis in 88 patients with leukodystrophy
Author(s) -
MartínezMontero P,
MuñozCalero M,
Vallespín E,
Campistol J,
Martorell L,
RuizFalcó MJ,
Santana A,
Pons R,
Dinopoulos A,
Sierra C,
Nevado J,
Molano J
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12103
Subject(s) - leukodystrophy , point mutation , genetics , gene , gene duplication , biology , mutation , disease , medicine , pathology
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.