G. Castaldo et al., SEVERE LIVER IMPAIRMENT IN A CYSTIC FIBROSIS-AFFECTED CHILD HOMOZYGOUS FOR THE G542X MUTATION, American journal of medical genetics, 69(2), 1997, pp. 155-158
The clinical and laboratory findings of a cystic fibrosis (CF) patient
homozygous for the G542X mutation are described. This is the first ca
se, among the 7 G542X homozygous CF subjects described so far who show
s severe liver involvement, associated pancreatic insufficiency, and m
oderate pulmonary expression of the disease, as demonstrated by labora
tory and imaging data, This case adds to the conclusion that genotype/
phenotype correlation in cystic fibrosis is more complex than formerly
suspected. (C) Wiley-Liss, Inc.