ArticleAmerican journal of human genetics1998
Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 145 citations in OpenAlex.
- A copy number variant overlapping the 3'UTR of PLP1 causes spastic paraplegia.Journal of human genetics · 2025Article
- 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
- Prenatal diagnosis ofAging · 2021Article
- Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Genome medicine · 2019Article
- Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.Colombia medica (Cali, Colombia) · 2018Article
- Neurogenetics of Pelizaeus-Merzbacher disease.Handbook of clinical neurology · 2018Review
- Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Human molecular genetics · 2017Article
- The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.Frontiers in molecular neuroscience · 2017Article
- A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.BMC neurology · 2016Article
- Novel pathologic findings in patients with Pelizaeus-Merzbacher disease.Neuroscience letters · 2016Article
- Progesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model.American journal of human genetics · 2014Article
- High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.Clinical genetics · 2013Article
- Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.Clinical genetics · 2012Article
- Disorders caused by chromosome abnormalities.The application of clinical genetics · 2010Article
- Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications.Molecular biology and evolution · 2010Article
- Separate proteolipid protein/DM20 enhancers serve different lineages and stages of development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008Article
- Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.Journal of Korean medical science · 2008Article
- Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.Neurogenetics · 2007Article
- Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Pelizaeus-Merzbacher disease (PMD) is an X-linked, dysmyelinating disorder of the CNS. Duplications of the proteolipid protein (PLP) gene have been found in a proportion of patients, suggesting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause PMD. We show that the duplication can be detected by interphase FISH, using a PLP probe in five patients and their four asymptomatic carrier mothers. The extent of the duplication was analyzed in each family by interphase FISH, with probes from a 1. 7-Mb region surrounding the PLP gene between markers DXS83 and DXS94. A large duplication >=500 kb was detected, with breakpoints that differed, between families, at the proximal end. Distinct separation of the duplicated PLP signals could be seen only on metaphase chromosomes in one family, providing further evidence that different duplication events are involved. Quantitative fluorescent multiplex PCR was used to confirm the duplication in patients, by the detection of increased copy number of the PLP gene. Multiallelic markers from the duplicated region were analyzed, since the identification of two alleles in an affected boy would indicate a duplication. The majority of boys were homozygous for all four markers, compared with their mothers, who were heterozygous for one to three of the markers. These results suggest that intrachromosomal rearrangements may be a common mechanism by which duplications arise in PMD. One boy was heterozygous for the PLP marker, indicating a duplication and suggesting that interchromosomal rearrangements of maternal origin also can be involved. Since duplications are a major cause of PMD, we propose that interphase FISH is a reliable method for diagnosis and identification of female carriers.
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