Year: 2013
Type: article
Study design: Observational Study
Abstract: 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.
Source: Clinical Genetics
DOI: 10.1111/cge.12103
Authors: P Martínez‐Montero, M Muñoz‐Calero, E Vallespín, J Campistol, L Martorell, MJ Ruiz‐Falcó, A Santana, R Pons, A Dinopoulos, C Sierra, J Nevado, J Molano
Institutions: Hospital Universitario La Paz, Centre for Biomedical Network Research on Rare Diseases, Hospital Sant Joan de Déu Barcelona, Hospital Infantil Universitario Niño Jesús, Hospital Universitario Insular de Gran Canaria, National and Kapodistrian University of Athens, Complejo Hospitalario de Jaén
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: bronze
Funder: Comunidad de Madrid
OpenAlex ID: W2170757178