ArticleJournal of medical genetics2006
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 60 citations in OpenAlex.
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- AtypicalGenes · 2021Review
- Genotype-Phenotype Associations in Patients With Type-1, Type-2, and AtypicalFrontiers in genetics · 2021Article
- Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.Human genetics · 2017Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.Postgraduate medical journal · 2013Article
- Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime.Journal of medical genetics · 2013Review
- Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.Neurogenetics · 2012Article
- Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.Journal of neuro-oncology · 2011Article
- A highly sensitive genetic protocol to detect NF1 mutations.The Journal of molecular diagnostics : JMD · 2011Article
- 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families.Molecular cytogenetics · 2010Article
- Detection and characterization of NF1 microdeletions by custom high resolution array CGH.The Journal of molecular diagnostics : JMD · 2009Article
- Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.American journal of human genetics · 2008Article
- Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.American journal of human genetics · 2007Article
- Genome wide copy number abnormalities in pediatric medulloblastomas as assessed by array comparative genome hybridization.Brain pathology (Zurich, Switzerland) · 2007Article
- Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation.Cytogenetic and genome research · 2007Article
- Molecular diagnosis of neurofibromatosis type 1: 2 years experience.Familial cancer · 2007Article
- Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.Molecular medicine (Cambridge, Mass.)Article
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Authors and funding
18 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSegmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene.
methodsWe performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles.
resultsThe size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications.
conclusionsWe show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
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