title: Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis.
abstract: Search for mutations in a cystic fibrosis patient, compound heterozygous for 1717-1G-->A and another uncharacterized molecular defect, revealed the presence of a de novo R1066H mutation on the affected chromosome of paternal origin. Three additional rare mutations (R1066C, R1066S and R1066L), occurring at the CpG dinucleotide at position 3328-3329 of the cystic fibrosis transmembrane conductance regulator gene, have so far been reported. The identification of a R1066H de novo mutation further suggests that this dinucleotide may constitute a mutational hotspot.
authors.affiliation: Clinical Molecular Biology Laboratory, IRCCS H. S. Raffaele, Milan, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Cremonesi
authors.forename: S
authors.initials: S
authors.lastname: Cainarca
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: R
authors.initials: R
authors.lastname: Padoan
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
mesh_terms: D000293:Adolescent; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D015226:Dinucleoside Phosphates / Q000235:genetics; D005220:Fathers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D017354:Point Mutation
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D015226:Dinucleoside Phosphates; C505032:CFTR protein, human; C015772:CpG dinucleotide