Two cystic fibrosis patients with the genotype G542X/G551D

J Reiss; U Ellermeyer; M Schloesser; W Fuhrmann; D Drews; H G Posselt

doi:10.1007/BF00230228

Two cystic fibrosis patients with the genotype G542X/G551D

Hum Genet. 1993 Mar;91(1):78-9. doi: 10.1007/BF00230228.

Authors

J Reiss¹, U Ellermeyer, M Schloesser, W Fuhrmann, D Drews, H G Posselt

Affiliation

¹ Institut für Humangenetik, Universität, Göttingen, Germany.

PMID: 7681035
DOI: 10.1007/BF00230228

Abstract

Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a "mild" allele and is, in this respect, dominant to the "severe" G551D.

Publication types

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

MeSH terms

Adult
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator
Exons / genetics*
Female
Genotype
Humans
Membrane Proteins / genetics*
Phenotype
Sequence Analysis

Substances

CFTR protein, human
Membrane Proteins
Cystic Fibrosis Transmembrane Conductance Regulator