ArticleAmerican journal of human genetics1999
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42 citing papers in PubMed, 131 citations in OpenAlex.
- The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.Clinical case reports · 2023Article
- Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge.Frontiers in genetics · 2023Article
- Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.Biomedicines · 2022Review
- Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.Orphanet journal of rare diseases · 2022Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Prenatal diagnosis ofAging · 2021Article
- Neuron-Oligodendrocyte Interactions in the Structure and Integrity of Axons.Frontiers in cell and developmental biology · 2021Review
- Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.Molecular genetics & genomic medicine · 2020Article
- Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease.Brain : a journal of neurology · 2020Article
- Robust and efficient knock-in in embryonic stem cells and early-stage embryos of the common marmoset using the CRISPR-Cas9 system.Scientific reports · 2019Article
- X-linked intellectual disability update 2017.American journal of medical genetics. Part A · 2018Review
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis.Case reports in genetics · 2017Article
- Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.Neuroscience letters · 2016Article
- Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.Human molecular genetics · 2015Article
- Modeling the natural history of Pelizaeus-Merzbacher disease.Neurobiology of disease · 2015Article
- Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation.Pulmonary pharmacology & therapeutics · 2015Article
- Potential primary roles of glial cells in the mechanisms of psychiatric disorders.Frontiers in cellular neuroscience · 2015Review
- Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.Journal of neurology · 2014Article
- MicroRNA expression in mouse oligodendrocytes and regulation of proteolipid protein gene expression.Journal of neuroscience research · 2012Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Pelizaeus-Merzbacher Disease (PMD) is an X-linked developmental defect of myelination affecting the central nervous system and segregating with the proteolipoprotein (PLP) locus. Investigating 82 strictly selected sporadic cases of PMD, we found PLP mutations in 77%; complete PLP-gene duplications were the most frequent abnormality (62%), whereas point mutations in coding or splice-site regions of the gene were involved less frequently (38%). We analyzed the maternal status of 56 cases to determine the origin of both types of PLP mutation, since this is relevant to genetic counseling. In the 22 point mutations, 68% of mothers were heterozygous for the mutation, a value identical to the two-thirds of carrier mothers that would be expected if there were an equal mutation rate in male and female germ cells. In sharp contrast, among the 34 duplicated cases, 91% of mothers were carriers, a value significantly (chi2=9. 20, P<.01) in favor of a male bias, with an estimation of the male/female mutation frequency (k) of 9.3. Moreover, we observed the occurrence of de novo mutations between parental and grandparental generations in 17 three-generation families, which allowed a direct estimation of the k value (k=11). Again, a significant male mutation imbalance was observed only for the duplications. The mechanism responsible for this strong male bias in the duplications may involve an unequal sister chromatid exchange, since two deletion events, responsible for mild clinical manifestations, have been reported in PLP-related diseases.
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