c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature

Figure 1 Chest computed tomography images of the cystic fibrosis patient. A chest computed tomography scan showed obvious exudative lesions and bilateral bronchiectasis in the lung of the cystic fibrosis patient.

Figure 2 Liver computed tomography image of the cystic fibrosis patient. A liver computed tomography scan revealed a low-density lesion in the left lobe of the liver.

Figure 3 Genomic sequence of exon 7 of CFTR. CFTR genomic sequencing results for exon 7 showed a heterozygous mutation of c.753_754delAG chr7-117176607-1171766 08 p.R251Sfs*6 in the cystic fibrosis patient and her mother. Exon 7 of CFTR was normal in her father.

Figure 4 Genomic sequence of exon 10 of CFTR. CFTR genomic sequencing results of exon 10 revealed a heterozygous mutation of c.1240C>T chr7-117188725 p.Q414* in the cystic fibrosis patient and her father. Exon 10 of her mother was normal.