title: Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients.
abstract: Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we report 3 novel mutations in CFTR in 3 Italian CF patients. To detect and identify 36 frequent mutations in Caucasians, we used the INNO-LiPA CFTR19 and INNO-LiPA CFTR17+Tn Update kits (Innogenetics; Ghent, Belgium). Our first analysis did not reveal both of the responsible mutations; thus, direct sequencing of the CFTR gene coding region was performed. The 3 patients were compound heterozygous. In one allele, the F508del (c.1521_1523delCTT, p.PHE508del) mutation in exon 11 was observed in each case. For the second allele, in patient No.1, direct sequencing revealed an 11-base pair deletion (GAGGCGATACT) in exon 14 (c.2236_2246del; pGlu746Alafs*29). In patient No. 2, direct sequencing revealed a nonsense mutation at nucleotide 3892 (c.3892G>T) in exon 24. In patient No. 3, direct sequencing revealed a deletion of cytosine in exon 27 (c.4296delC; p.Asn1432Lysfs*16). These 3 novel mutations indicate the production of a truncated protein, which consequently results in a non-functional polypeptide.
authors.affiliation: Institute for Maternal and Child Health "Burlo Garofolo", Trieste, Italy stefania.lenarduzzi@burlo.trieste.it.
authors.forename: S
authors.initials: S
authors.lastname: Lenarduzzi
authors.affiliation: Institute for Maternal and Child Health "Burlo Garofolo", Trieste, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Morgutti
authors.affiliation: Institute for Maternal and Child Health "Burlo Garofolo", Trieste, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.affiliation: Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Coiana
authors.affiliation: Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Rosatelli
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D012720:Severity of Illness Index
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator