A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
We carried out molecular screening for mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in eight children of Sardinian descent seen because of hypotonic dehydration associated with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis; none had pulmonary or pancreatic involvement. All the patients had the T3381 mutation either in homozygosity or compound heterozygosity with another CF mutation. The T3381 mutation was not detected in patients with CF who had classic symptoms or in healthy persons of the same descent. These data suggest that the T3381 mutation is associated with a specific mild CF phenotype.
Leoni
G B
GB
Ospedale Regionale per Le Microcitemie (USL 21), Cagliari, Italy.
Pitzalis
S
S
Podda
R
R
Zanda
M
M
Silvetti
M
M
Caocci
L
L
Cao
A
A
Rosatelli
M C
MC
D002648:Child; D002675:Child, Preschool; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D003681:Dehydration / Q000235:genetics*; D006801:Humans; D007010:Hyponatremia / Q000235:genetics; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator