title: Characterization of a single base-pair deletion in neurofibromatosis type 1.
abstract: The gene which is responsible for neurofibromatosis type 1 (NF1) is located on chromosome 17 (17q11.2). The NF1 gene is approximately 350 kilobases (kb) long and exhibits an extremely high mutation rate; therefore, most patients are expected to have unique mutations. To date, relatively few mutations have been well characterized. We report here a de novo single base pair (bp) deletion in one NF1 allele in a patient diagnosed with NF1 and leukemia. We further characterized this mutation at the RNA level by allele-specific oligonucleotide (ASO) hybridization which demonstrated that the mutant allele is transcribed.
authors.affiliation: Department of Pediatrics, University of Florida, Gainesville 32608.
authors.forename: S D
authors.initials: SD
authors.lastname: Colman
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
authors.forename: M R
authors.initials: MR
authors.lastname: Wallace
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D017384:Sequence Deletion