Skip to main content

Advertisement

SpringerLink
Log in

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G→A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Department of Neurology, University Hospital Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands Tel.: +31-24-3613394; Fax: +31-24-3541122; e-mail: A.Verrips@czzoneu.azn.nl, , , , , , NL

    A. Verrips & Fons J. M. Gabreëls

  2. Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands, , , , , , NL

    Gerry C. H. Steenbergen-Spanjers, J. A. F. M. Luyten, R. A. Wevers & Lambert P. W. J. van den Heuvel

  3. Department of Neurology, University Hospital Utrecht, P. O. Box 85500, NL-3508 GA Utrecht, The Netherlands, , , , , , NL

    John H. J. Wokke

  4. Central Laboratory for Clinical Chemistry, University Hospital, P. O. Box 30001, NL 9700 RB, Groningen, The Netherlands, , , , , , NL

    Bert G. Wolthers

Authors
  1. A. Verrips
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Gerry C. H. Steenbergen-Spanjers
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. A. F. M. Luyten
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. A. Wevers
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. John H. J. Wokke
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Fons J. M. Gabreëls
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Bert G. Wolthers
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Lambert P. W. J. van den Heuvel
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Received: 15 March 1997 / Accepted: 26 March 1997

Rights and permissions

Reprints and permissions

About this article

Cite this article

Verrips, A., Steenbergen-Spanjers, G., Luyten, J. et al. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. Hum Genet 100, 284–286 (1997). https://doi.org/10.1007/s004390050506

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050506

Keywords

Search

Navigation