Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling

Anna Cristina Tomaiuolo, Pietro Sirleto, Claudia Centrone, Cecilia Surace, Federico Alghisi, Stefano Petrocchi, Antonietta Lombardo, Maja Rossi, Francesca Torricelli, Vincenzina Lucidi, Adriano Angioni

Research output: Contribution to journalArticle

Abstract

Objectives: To characterize a novel deletion of exon 3 of CFTR gene and to evaluate the implications in Cystic Fibrosis (CF) care and genetic counseling. Design and methods: 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. Results: We found a novel isolate 538. bp deletion of exon 3, described as 328del538, giving rise to a nonsense codon 60. bp at the 3' end of the new coding sequence or, alternatively, a novel splice site at the breakpoints. Conclusions: 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.

Original languageEnglish
Pages (from-to)799-803
Number of pages5
JournalClinical Biochemistry
Volume44
Issue number10-11
DOIs
Publication statusPublished - Jul 2011

Keywords

  • Counseling
  • Cystic Fibrosis
  • Deletion
  • Mutation

ASJC Scopus subject areas

  • Clinical Biochemistry

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