Abstract
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
Highlights
Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the Caucasian population and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Ratjen and Döring, 2003; Lommatzsch and Aris, 2009)
Over 1700 mutations and polymorphisms have been identified throughout the CFTR gene (Cystic Fibrosis Mutation Database), and about onehalf are rare mutations leading to an amino acid substitution into the protein
In 2005, we have described for the first time in the CF mutation database, the missense mutation H949L, a nucleotide change of A to T at base pair 2978 in exon 15 of CFTR gene, resulting in a substitution of histidine residue to leucine at codon 949, as potentially disease-associated allele variation
Summary
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele. Angela Polizzi1*, Riccardina Tesse1*, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo and Lucio Armenio1 1Department of Biomedicine of the Developmental Age, Apulian Referral Center for Cystic Fibrosis, Pediatric Unit “S. Angela Polizzi1*, Riccardina Tesse1*, Teresa Santostasi, Anna Diana, Antonio Manca, Vito Paolo Logrillo, Maria Domenica Cazzato, Maria Giuseppa Pantaleo and Lucio Armenio1 1Department of Biomedicine of the Developmental Age, Apulian Referral Center for Cystic Fibrosis, Pediatric Unit “S. Maggiore”, University of Bari, Bari, Italy. 2Pediatric Unit, “S. Caterina Novella” Hospital, Galatina, Italy
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