A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

H Cuppens; P Marynen; C De Boeck; F De Baets; E Eggermont; H Van den Berghe; J J Cassiman

doi:10.1136/jmg.27.11.717

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

J Med Genet. 1990 Nov;27(11):717-9. doi: 10.1136/jmg.27.11.717.

Authors

H Cuppens¹, P Marynen, C De Boeck, F De Baets, E Eggermont, H Van den Berghe, J J Cassiman

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

Abstract

The clinical and molecular findings in an infant with mild manifestations of cystic fibrosis, who is homozygous for the G542X mutation, and her heterozygous nephew, who is severely affected, are described.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Child, Preschool
Codon
Cystic Fibrosis / genetics*
Cystic Fibrosis / physiopathology
Exons*
Female
Homozygote
Humans
Infant
Male
Molecular Sequence Data
Mutation*
Pedigree
Polymerase Chain Reaction

Substances

Codon