Human Genetics

, Volume 100, Issue 2, pp 220–223 | Cite as

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

  • M. Hergersberg
  • Jaya Balakrishnan
  • Thomas Bettecken
  • Francoise Chevalier-Porst
  • Christian Brägger
  • René Burger
  • Inge Einschenk
  • Sabina Liechti-Gallati
  • Michael Morris
  • Daniel Schorderet
  • Francine Thonney
  • Hans Moser
  • Naseem Malik
Original investigation

Abstract

We have analysed 1173 cystic fibrosis (CF) chromosomes from Switzerland for eight mutations in the CF transmembrane conductance regulator (CFTR) gene. This permitted the identification of 88.5% of all mutations present. A novel insertion mutation in exon 20 of the CFTR gene, 3905insT, was discovered. This mutation accounted for 4.8% of CFTR gene mutations in Switzerland and has since been identified in other populations of probable Swiss descent. It is associated with a highly variable clinical phenotype but always with pancreatic insufficiency. Haplotype analysis with three intragenic microsatellites in the CFTR gene showed that the mutation is associated with a haplotype rarely identified on other CFTR alleles and, therefore, that the frequency of the mutation in Switzerland is explained by a founder effect of a relatively recent mutation event.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • M. Hergersberg
    • 1
  • Jaya Balakrishnan
    • 1
  • Thomas Bettecken
    • 2
  • Francoise Chevalier-Porst
    • 3
  • Christian Brägger
    • 4
  • René Burger
    • 4
  • Inge Einschenk
    • 1
  • Sabina Liechti-Gallati
    • 2
  • Michael Morris
    • 5
  • Daniel Schorderet
    • 6
  • Francine Thonney
    • 6
  • Hans Moser
    • 2
  • Naseem Malik
    • 7
  1. 1.Institut für Medizinische Genetik, Universität Zürich, Rämistrasse 74, CH-8001 Zurich, Switzerland Tel.: +411 257 25 35; Fax: +411 262 04 70; e-mail hergie@medgen.unizh.chCH
  2. 2.Universitäts-Kinderklinik, Bern, SwitzerlandCH
  3. 3.Hôpital Debrousse, Lyon, FranceFR
  4. 4.Universitäts-Kinderklinik, Zurich, SwitzerlandCH
  5. 5.Division de Génétique Médicale, Gèneve, SwitzerlandCH
  6. 6.Division Autonome de Génétique Médicale, Lausanne, SwitzerlandCH
  7. 7.Abteilung für Medizinische Genetik, Universitätskinderklinik, Basel, SwitzerlandCH

Personalised recommendations