A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.
In addition to the frequent delta F508 and Y122X mutations on cystic fibrosis (CF) chromosomes of patients from Reunion Island, one splicing mutation, 3120+1G-->A is observed relatively frequently (12.5%) in this group, in comparison with the French metropolitan population (<0.001 %). This mutation, disrupting the 5' splice donor site of intron 16, can be detected easily by restriction enzyme BstNI digestion. In 2 CF patients homozygous for this mutation, the clinical pattern was severe, with both pancreatic insufficiency and respiratory symptoms.
Bienvenu
T
T
Laboratoire de Biochimie Génétique et INSERM U 129, Paris, France.
Cartault
F
F
Lesure
F
F
Renouil
M
M
Beldjord
C
C
Kaplan
J C
JC
D002648:Child; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D012326:RNA Splicing; D017508:Reunion / Q000453:epidemiology
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator