title: Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.
abstract: OBJECTIVE
  To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling.
  
  
  METHODS
  We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation.
  
  
  RESULTS
  We found a novel isolate 538bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60bp at the 3' end of the new coding sequence or, alternatively, a novel splice site at the breakpoints.
  
  
  CONCLUSIONS
  The 328del538 is a rare lesion with the characteristics of a complete, but moderate, phenotypic expression. Its finding underlines the importance of improving the detection of mutations using different methods.
authors.affiliation: Cytogenetics and Molecular Genetics Laboratory, Ospedale Pediatrico Bambino Gesù, Piazza S.Onofrio 4, 00165, Roma, Italy. tomaiuolo@opbg.net
authors.forename: Anna Cristina
authors.initials: AC
authors.lastname: Tomaiuolo
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.forename: Claudia
authors.initials: C
authors.lastname: Centrone
authors.forename: Cecilia
authors.initials: C
authors.lastname: Surace
authors.forename: Federico
authors.initials: F
authors.lastname: Alghisi
authors.forename: Stefano
authors.initials: S
authors.lastname: Petrocchi
authors.forename: Antonietta
authors.initials: A
authors.lastname: Lombardo
authors.forename: Maja
authors.initials: M
authors.lastname: Rossi
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Lucidi
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D019005:Cystic Fibrosis Transmembrane Conductance Regulator