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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Fig. 3

Different lung manifestations and potential modifier loci in Patients 6–1 and 6–2. a As siblings, Patients 6–1 and 6–2 are both homozygous for p.G970D, and their parent are both heterozygous carriers. b Chest CT showed that Patient 6–1 presented diffuse bronchiectasis in the lungs bilaterally, while Patient 6–2 only had focal bronchiectasis in the right upper lobe. c Genotypes of the three SNPs associated with lung disease severity (rs1800469, ‘-509’, rs1982073, ‘codon 10’, and rs8179181, ‘intron 5’) in the TGFB1 gene. Patient 6–1 carried the risk genotype CC at codon 10, indicated in red, and Patient 6–2 carried the protective C-T-C haplotype, shown in green

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