European Journal of Pediatrics

, Volume 152, Issue 12, pp 1006–1011

Cystic fibrosis: The ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study

  • G. Borgo
  • P. Gasparini
  • A. Bonizzato
  • G. Cabrini
  • G. Mastella
  • P. F. Pignatti
Medical Genetics

DOI: 10.1007/BF01957227

Cite this article as:
Borgo, G., Gasparini, P., Bonizzato, A. et al. Eur J Pediatr (1993) 152: 1006. doi:10.1007/BF01957227

Abstract

In an attenmpt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5–10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous ΔF508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of ΔF508 homozygotes could have been coincidental. We conclude that up to the age of 8.5–10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the ‡F508 mutation.

Key words

Cystic fibrosis ‡F508 Gene mutation Genotype Phenotype 

Abbreviations

CF

cystic fibrosis

FEV1

forced expiratory volume in is

FVC

forced vital capacity

PI

pancreas insufficient

PS

pancreas sufficient

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • G. Borgo
    • 1
  • P. Gasparini
    • 2
    • 3
  • A. Bonizzato
    • 2
    • 3
  • G. Cabrini
    • 1
  • G. Mastella
    • 1
  • P. F. Pignatti
    • 2
  1. 1.Centro Regionale Veneto Fibrosi CisticaOspedale Civile MaggioreVeronaItaly
  2. 2.Istituto di Scienze BiologicheFacoltà di Medicina e Chirurgia, Università di VeronaItaly
  3. 3.Servizio di Genetica medicaI.R.C.C.S.-Ospedale C.S.S.S. Giovanni RotondoFoggiaItaly

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