Human Genetics

, Volume 98, Issue 6, pp 706–709

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient

  • U. Pannicke
  • Peter Tuchschmid
  • Wilhelm Friedrich
  • C. R. Bartram
  • Klaus Schwarz
Original investigation

DOI: 10.1007/s004390050290

Cite this article as:
Pannicke, U., Tuchschmid, P., Friedrich, W. et al. Hum Genet (1996) 98: 706. doi:10.1007/s004390050290

Abstract

Four percent of human severe combined immunodeficiency cases are caused by a deficiency of the enzyme purine nucleoside phosphorylase (PNP). In this study we investigated the molecular basis for this rare autosomal recessive disease. Sequence analyses led to the identification of two new mutations in the PNP gene: an A to G transition in exon 5, which leads to the substitution of tyrosine 192 by a cysteine residue, and a 1-bp deletion in exon 6, which causes premature translation termination of the PNP protein. Both PNP mutations affect predicted major structural motifs of the protein and result in posttranslational instability of the enzyme.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • U. Pannicke
    • 1
  • Peter Tuchschmid
    • 3
  • Wilhelm Friedrich
    • 2
  • C. R. Bartram
    • 1
  • Klaus Schwarz
    • 1
  1. 1.Section of Molecular Biology, Department of Pediatrics II, University of Ulm, Helmholtzstrasse 10, D-89081 Ulm, Germany Tel.: +49-731-150-199; Fax: +49-731-150-175DE
  2. 2.Department of Pediatrics II, University of Ulm, Helmholtzstrasse 10, D-89081, Ulm, GermanyDE
  3. 3.University Children’s Hospital, Steinwiesstrasse 75, CH-8032 Zurich, SwitzerlandCH