Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
Copyright policy )Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling.We performed a wide mutational analysis of CFTR gene, using reverse dot blot, Multiplex Ligation-dependent Probe Amplification (MLPA) assay and Real Time Quantitative PCR, in a carrier male and two CF patients with the F508del mutation.We found a novel isolate 538bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60bp at the 3' end of the new coding sequence or, alternatively, a novel splice site at the breakpoints.The 328del538 is a rare lesion with the characteristics of a complete, but moderate, phenotypic expression. Its finding underlines the importance of improving the detection of mutations using different methods.
Adult, Male, DNA, Complementary, Base Sequence, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Counseling, Exons, Polymerase Chain Reaction, Phenotype, Humans, Female, Child, Sequence Deletion
Adult, Male, DNA, Complementary, Base Sequence, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Counseling, Exons, Polymerase Chain Reaction, Phenotype, Humans, Female, Child, Sequence Deletion
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