title: A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.
abstract: Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a previous survey of Italian CF patients, Umbria (a small region with about 900,000 inhabitants) was excluded due to the low number of chromosomes tested (<50), we have performed a comprehensive retrospective clinical and molecular survey of 62 CF patients coming from this region. We have summarized all the genotypic and phenotypic data in a table, and we interviewed the older patients in order to obtain a comprehensive overview of their conditions. We found that the c.2052_2053insA (2184insA) variant, a class I mutation with high frequency in Eastern Europe but very rare in Italy, is the fourth most frequent allele in Umbria. The 2184insA variant was not included in the first-level regional screening, and we therefore suggest the implementation of this variant in the future.
authors.affiliation: Medical Genetics Unit, Hospital 'S. Maria della Misericordia', Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Ilenia
authors.initials: I
authors.lastname: Isidori
authors.forename: Valeria
authors.initials: V
authors.lastname: Mencarini
authors.forename: Guido
authors.initials: G
authors.lastname: Pennoni
authors.forename: Amedea
authors.initials: A
authors.lastname: Mencarelli
authors.forename: Gabriela
authors.initials: G
authors.lastname: Stangoni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Cara
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D030881:Disclosure; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006306:Health Surveys; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator