ArticleThe Journal of molecular diagnostics : JMD2009
Detection and characterization of NF1 microdeletions by custom high resolution array CGH.
Article in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 35 citations in OpenAlex.
- Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.BMC medical genomics · 2024Article
- Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Human genetics · 2021Review
- AtypicalGenes · 2021Review
- Severe Phenotype in Patients with Large Deletions ofCancers · 2021Article
- Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.Orphanet journal of rare diseases · 2020Article
- Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.Orphanet journal of rare diseases · 2016Article
- Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.Scientific reports · 2015Article
- NF1 single and multi-exons copy number variations in neurofibromatosis type 1.Journal of human genetics · 2015Article
- Relevance of MPNST cell lines as models for NF1 associated-tumors.Journal of neuro-oncology · 2013Article
- Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.Neurogenetics · 2012Article
- Screening for mutation site on the type I neurofibromatosis gene in a family.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.European journal of human genetics : EJHG · 2012Article
- A highly sensitive genetic protocol to detect NF1 mutations.The Journal of molecular diagnostics : JMD · 2011Article
- Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia.Molecular cytogenetics · 2011Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 5% to 10% of cases, neurofibromatosis type 1 is caused by microdeletions scattered across the entire NF1 gene and various neighboring genes. The phenotype appears to be more severe in patients with NF1 microdeletions than in patients with NF1 single point mutations. We have developed a new method for detecting and characterizing NF1 microdeletions based on a custom high-resolution oligonucleotide array comparative genomic hybridization by using the custom 8x15K Agilent array format. The array comprised a total of 14,207 oligonucleotide probes spanning the whole of chromosome 17, including 12,314 probes spanning an approximately 8 Mb interval surrounding the NF1 locus. We validated this approach by testing NF1 microdeleted DNA samples previously characterized by means of microsatellites and real-time PCR methods. Our array comparative genomic hybridization provided enough information for subsequent long-range PCR and nucleotide sequencing of the microdeletion endpoints. Unlike previously described methods, our array comparative genomic hybridization was able to unambiguously differentiate between the three types of microdeletions (type I, type II, and atypical) and to characterize atypical microdeletions. Further comparative studies of patients with well-characterized genotypes and phenotypes and different microdeletions sizes and breakpoints will help determine whether haploinsufficiency of deleted genes and/or genes rearrangements influence clinical outcomes.
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