title: A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.
abstract: 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.
authors.affiliation: Laboratoire de Biochimie Génétique et INSERM U 129, Paris, France.
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: F
authors.initials: F
authors.lastname: Cartault
authors.forename: F
authors.initials: F
authors.lastname: Lesure
authors.forename: M
authors.initials: M
authors.lastname: Renouil
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
mesh_terms: 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
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator