Advertisement

Human Genetics

, Volume 102, Issue 3, pp 367–371 | Cite as

Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene

  • Anja Klose
  • Peter Nicholas Robinson
  • Andreas Gewies
  • Lan Kluwe
  • Dieter Kaufmann
  • Annegret Buske
  • Sigrid Tinschert
  • H. Peters
Original investigation

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.

Keywords

Chromosome 17q11 Donor Site Neurofibromatosis Mutation Screening Neurofibromatosis Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Anja Klose
    • 1
  • Peter Nicholas Robinson
    • 2
  • Andreas Gewies
    • 1
  • Lan Kluwe
    • 3
  • Dieter Kaufmann
    • 4
  • Annegret Buske
    • 1
  • Sigrid Tinschert
    • 1
  • H. Peters
    • 1
  1. 1.Institut für Medizinische Genetik, Medizinische Fakultät der Humboldt-Universität zu Berlin, Charité, Schumannstrasse 20–23, D-10098 Berlin, Germany Tel.: +49+30-28025681; Fax: +49-30-28021286; e-mail: h.peters@genetik.charite.hu-berlin.deDE
  2. 2.Kliniken und Polikliniken für Kinderheilkunde, Medizinische Fakultät der Humboldt-Universität zu Berlin, Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, GermanyDE
  3. 3.Abteilung für Neurochirurgie, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, D-20246 Hamburg, GermanyDE
  4. 4.Abteilung Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, D-89081 Ulm, GermanyDE

Personalised recommendations