title: Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
abstract: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by a marked variability in expression. A more severe phenotype is frequently observed in the group of patients carrying a large NF1 deletion. To study the extent of the microdeletion in these NF1 patients, we generated a partial physical map of the NF1 flanking region. We describe seven PACs and three new polymorphic dinucleotide repeats located outside the NF1 gene and analyzed 20 unrelated individuals with an NF1 microdeletion in a collaborative study. We detected one individual with a substantially smaller deletion including only the NF1 gene and its three embedded genes. In the other 19 patients, the deletion extended at least 1 Mb. The parental origin of the deletion was determined in 15 individuals and was maternal in 13 and paternal in two cases. The new molecular tools described here can be used to unequivocally diagnose a possible extragenic extension of an NF1 deletion.
authors.affiliation: Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: C
authors.initials: C
authors.lastname: Lopez Correa
authors.forename: H
authors.initials: H
authors.lastname: Brems
authors.forename: C
authors.initials: C
authors.lastname: Lázaro
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: S
authors.initials: S
authors.lastname: Mason
authors.forename: J L
authors.initials: JL
authors.lastname: Rutkowski
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: E
authors.initials: E
authors.lastname: Legius
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D018900:Dinucleotide Repeats; D020224:Expressed Sequence Tags; D005260:Female; D017353:Gene Deletion; D005799:Genes, Dominant; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010290:Parents; D010641:Phenotype; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers