Actions and consequences: characterization of a deletion in the CFTR gene that encompasses a splice site

[摘要] We report an interesting complex CFTR gene mutation in a patient with cystic fibrosis. It is an insertion combined with a deletion that spans an exonic splice site, causes a frameshift and could affect splicing. This rare mutation poses a challenge to provide correct nomenclature and to interpret its clinical significance.

[学科分类] 传染病学

[关键词] Cystic fibrosis;indel;splice mutation;frameshift