ArticleAmerican journal of human genetics2000
NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 107 citations in OpenAlex.
- Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.BMC medical genomics · 2024Article
- BiallelicGenes · 2022Article
- Experimental models of undifferentiated pleomorphic sarcoma and malignant peripheral nerve sheath tumor.Laboratory investigation; a journal of technical methods and pathology · 2022Article
- Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.Journal of clinical medicine · 2022Article
- Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.Cancers · 2021Article
- AtypicalGenes · 2021Review
- Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).Journal of medical genetics · 2021Article
- Genotype-Phenotype Associations in Patients With Type-1, Type-2, and AtypicalFrontiers in genetics · 2021Article
- Clinical characterization of children and adolescents with NF1 microdeletions.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- An Interstitial 17q11.2 de novo Deletion Involving theMolecular syndromology · 2019Article
- 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
- Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.Orphanet journal of rare diseases · 2014Article
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.American journal of medical genetics. Part A · 2012Article
- 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.European journal of human genetics : EJHG · 2012Article
- Overexpression of Jazf1 induces cardiac malformation through the upregulation of pro-apoptotic genes in mice.Transgenic research · 2011Article
- A highly sensitive genetic protocol to detect NF1 mutations.The Journal of molecular diagnostics : JMD · 2011Article
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.Annals of the New York Academy of Sciences · 2010Review
- Detection and characterization of NF1 microdeletions by custom high resolution array CGH.The Journal of molecular diagnostics : JMD · 2009Article
- Copy number variations and cancer.Genome medicine · 2009Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in two patients. In subsequent FISH experiments, performed with locus-specific probes generated from the same YACs by means of a novel procedure, we identified the smallest region of overlapping (SRO), mapped the deletion breakpoints, and identified the genes that map to each deletion interval. From centromere to telomere, the approximately 0.8-Mb SRO includes sequence-tagged site 64381, the SUPT6H gene (encoding a transcription factor involved in chromatin structure), and NF1. Extending telomerically from the SRO, two additional genes-BLMH, encoding a hydrolase involved in bleomycin resistance, and ACCN1, encoding an amiloride-sensitive cation channel expressed in the CNS-were located in the deleted intervals of seven and three patients, respectively. An apparently common centromeric deletion breakpoint was shared by all of the patients, whereas a different telomeric breakpoint defined a deletion interval of 0.8-3 Mb. There was no apparent correlation between the extent of the deletion and the phenotype. This characterization of gross NF1 deletions provides the premise for addressing correctly any genotype-phenotype correlation in the subset of patients with NF1 deletions.
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