Human Genetics

, Volume 100, Issue 1, pp 67–74

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

  • H. Kehrer-Sawatzki
  • Martin Udart
  • Winfrid Krone
  • Reinhard Baden
  • Raimund Fahsold
  • Gilles Thomas
  • Beatrice Schmucker
  • Günter Assum
Original investigation

DOI: 10.1007/s004390050467

Cite this article as:
Kehrer-Sawatzki, H., Udart, M., Krone, W. et al. Hum Genet (1997) 100: 67. doi:10.1007/s004390050467

Abstract

The case of a seriously disabled and retarded female patient with neurofibromatosis type 2 (NF2) is reported. She suffered from bilateral vestibular schwannomas, multiple intracranial meningiomas and neurinomas. The constitutional karyotype of the patient was 46,XX, r(22)/45,XX,–22. A constitutional G to A transition in the proximal 3′ untranslated region of isoforms 1 and 2 was identified in the patient’s NF2 gene and shown not to affect differential splicing or mRNA stability. The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • H. Kehrer-Sawatzki
    • 1
  • Martin Udart
    • 1
  • Winfrid Krone
    • 1
  • Reinhard Baden
    • 2
  • Raimund Fahsold
    • 3
  • Gilles Thomas
    • 4
  • Beatrice Schmucker
    • 5
  • Günter Assum
    • 1
  1. 1.Abteilung Humangenetik, Albert-Einstein-Allee 11, D-89081 Ulm, Germany Tel.: +49-731-502-3416; Fax: +49-731-502-3427 e-mail: hildegard.kehrer-sawatzki@medizin.uni-ulm.deDE
  2. 2.Behindertenanstalt Stetten, D-71394 Kernen im Remstal, GermanyDE
  3. 3.Gemeinschaftspraxis, B. Prager & A. Junge, Seminarstrasse 22, D-01067, Dresden, GermanyDE
  4. 4.INSERM U434, Fondation Jean Dausset/CEPH, 27 rue Juliette Dodu, F-75010 Paris, FranceFR
  5. 5.Institut für Humangenetik, Universität Erlangen-Nürnberg, Schwabachanlage 10, D-91054 Erlangen, GermanyDE