title: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
abstract: The frequency of 62 different CFTR mutations in 225 chromosomes from a CF birth cohort, which includes all the affected subjects born in northeast Italy during a 10-year period of time, was investigated. New mutations were also searched by the analysis of 15 different exons. The total proportion of CF chromosomes with detectable mutations is 73.78%. Therefore although a considerable improvement in CF mutation detection in our population has been achieved, the search for other common and uncommon mutations should be continued. Moreover a carrier screening program should be postponed until reaching a cumulative proportion of known CF alleles of at least 90%. The correlations between the genotypes which have been identified and the main clinical features added some new information to the classification of CF mutations as pancreatically severe or mild ones.
authors.affiliation: I.R.C.C.S.-C.S.S., Verona, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: C
authors.initials: C
authors.lastname: Marigo
authors.forename: G
authors.initials: G
authors.lastname: Bisceglia
authors.forename: E
authors.initials: E
authors.lastname: Nicolis
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: C
authors.initials: C
authors.lastname: Bombieri
authors.forename: G
authors.initials: G
authors.lastname: Borgo
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: G
authors.initials: G
authors.lastname: Cabrini
mesh_terms: D000293:Adolescent; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator