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PLP1 gene analysis in 88 patients with leukodystrophy
P Martínez-Montero1, M Muñoz-Calero, E Vallespín
1INGEMM, IdIPAZ, CIBERER, Hospital Universitario La Paz, Madrid, Spain.
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.
Insights
Mutations in the PLP1 gene cause Pelizaeus-Merzbacher disease (PMD), a central nervous system disorder. This study identified various PLP1 gene mutations in 21 male patients with leukodystrophy.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disorder primarily affecting the central nervous system.
- Mutations in the PLP1 gene are the most common cause of PMD, acting through diverse molecular mechanisms.
- PMD exhibits a broad clinical spectrum.
Purpose of the Study:
- To investigate the spectrum of PLP1 gene mutations in male patients with leukodystrophy.
- To identify the frequency of PLP1 gene mutations in a cohort of patients with leukodystrophy.
Main Methods:
- Analysis of the PLP1 gene in 88 male patients with leukodystrophy using Multiplex Ligation-dependent Probe Amplification (MLPA) and DNA sequencing.
- Gene dosage analysis for PLP1 duplications using array Comparative Genomic Hybridization (array-CGH).
- Customized array-CGH at Xq22.2 to detect complex rearrangements in the PLP1 gene region.
Main Results:
- Identified PLP1 gene mutations in 21 out of 88 patients (approximately 24%).
- Detected various mutation types, including duplications, large and small deletions, and point mutations.
- Complex rearrangements within the PLP1 gene region were identified using customized array-CGH.
Conclusions:
- Mutations in the PLP1 gene are a significant cause of PMD in patients with leukodystrophy.
- The study highlights the utility of MLPA and array-CGH in detecting diverse PLP1 mutations.
- Understanding the molecular basis of PMD is crucial for diagnosis and potential therapeutic strategies.
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