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Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene |
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| Authors: | Anja Klose Peter Nicholas Robinson Andreas Gewies Lan Kluwe Dieter Kaufmann Annegret Buske Sigrid Tinschert H. Peters |
| Affiliation: | Institut für Medizinische Genetik, Medizinische Fakult?t der Humboldt-Universit?t 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 Kliniken und Polikliniken für Kinderheilkunde, Medizinische Fakult?t der Humboldt-Universit?t zu Berlin, Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany, DE Abteilung für Neurochirurgie, Universit?tsklinikum Hamburg-Eppendorf, Martinistrasse 52, D-20246 Hamburg, Germany, DE Abteilung Humangenetik, Universit?t Ulm, Albert-Einstein-Allee 11, D-89081 Ulm, Germany, DE |
| 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. Received: 11 August 1997 / Accepted: 13 November 1997 |
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