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

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 _Bsa_BI polymorphism was identified in intron 19a.

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Authors and Affiliations

  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.de, , , , , , DE
    Anja Klose, Andreas Gewies, Annegret Buske, Sigrid Tinschert & H. Peters
  2. Kliniken und Polikliniken für Kinderheilkunde, Medizinische Fakultät der Humboldt-Universität zu Berlin, Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany, , , , , , DE
    Peter Nicholas Robinson
  3. Abteilung für Neurochirurgie, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, D-20246 Hamburg, Germany, , , , , , DE
    Lan Kluwe
  4. Abteilung Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, D-89081 Ulm, Germany, , , , , , DE
    Dieter Kaufmann

Authors

  1. Anja Klose
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  2. Peter Nicholas Robinson
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  3. Andreas Gewies
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  4. Lan Kluwe
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  5. Dieter Kaufmann
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  6. Annegret Buske
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  7. Sigrid Tinschert
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  8. H. Peters
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Received: 11 August 1997 / Accepted: 13 November 1997

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Klose, A., Robinson, P., Gewies, A. et al. Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.Hum Genet 102, 367–371 (1998). https://doi.org/10.1007/s004390050706

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