Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.
We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.
De Braekeleer
M
M
Département des Sciences Humaines, Université du Uuébec à Chicoutimi, Canada.
Simard
F
F
Aubin
G
G
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation
C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator