title: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.
abstract: A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellite marker for the NF1 gene. A total of 28 patients were hemi- or homozygous for all seven markers and were thus considered as candidates for NF1 deletion with a calculated probability of 99.99%. Metaphase or interphase cells were available from 23 of these 28 individuals for molecular cytogenetics. Fluorescence in situ hybridization (FISH) confirmed an NF1 deletion in 22 (96%) of the 23 patients. Thus, a constitutional deletion of the NF1 gene is responsible for the disease phenotype in at least 4.4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes.
authors.affiliation: Laboratory for Tumor Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg-Eppendorf; Hamburg, Germany.
authors.forename: Lan
authors.initials: L
authors.lastname: Kluwe
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel, Kiel,Germany.
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.affiliation: Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel, Kiel,Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Gesk
authors.affiliation: Laboratory for Tumor Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg-Eppendorf; Hamburg, Germany.
authors.forename: Reinhard E
authors.initials: RE
authors.lastname: Friedrich
authors.affiliation: Institute of Medical Genetics, Charité, Humboldt-University, Berlin, Germany.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Tinschert
authors.affiliation: Department of Human Genetics, University of Ulm, Ulm, Germany.
authors.forename: Hildegard
authors.initials: H
authors.lastname: Kehrer-Sawatzki
authors.affiliation: Department of Neurology, Klinikum Nord Ochsenzoll, Hamburg, Germany.
authors.forename: Victor-F
authors.initials: VF
authors.lastname: Mautner
mesh_terms: D005260:Female; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics; D017678:Sex Distribution
chemical_list: D025542:Neurofibromin 1