title: Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.
abstract: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a.
authors.affiliation: Institut für Medizinische Genetik, Medizinische Fakultät der Humboldt-Universität zu Berlin, Charité, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Klose
authors.forename: N
authors.initials: N
authors.lastname: Robinson
authors.forename: A
authors.initials: A
authors.lastname: Gewies
authors.forename: L
authors.initials: L
authors.lastname: Kluwe
authors.forename: D
authors.initials: D
authors.lastname: Kaufmann
authors.forename: A
authors.initials: A
authors.lastname: Buske
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
authors.forename: H
authors.initials: H
authors.lastname: Peters
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C070857:endodeoxyribonuclease BsaBI; D015252:Deoxyribonucleases, Type II Site-Specific