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

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

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 excl...

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Veröffentlicht in:Public health genomics 2016-01, Vol.19 (6), p.336-341
Hauptverfasser: Prontera, Paolo, Isidori, Ilenia, Mencarini, Valeria, Pennoni, Guido, Mencarelli, Amedea, Stangoni, Gabriela, Di Cara, Giuseppe, Verrotti, Alberto
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
Alleles
Child
Child, Preschool
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Disclosure
Female
Gene Frequency
Genetic Testing - methods
Genotype
Health Surveys
Humans
Italy
Male
Middle Aged
Mutation
Original Paper
Original Papers
Phenotype
Retrospective Studies
Surveys and Questionnaires
Young Adult
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Zusammenfassung: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 (
ISSN:1662-4246
1662-8063
DOI:10.1159/000450849