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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report

Fig. 2

Lung histology and FLCN analysis. (a) Left: The thoracoscopy revealed multiple subpleural cysts (arrows). Right: Histology of the resected lung. Pulmonary cysts preferentially develop along an interlobular septum, and they are partially incorporated within alveoli. Neither fibrosis nor active inflammation was observed. Stars indicate cyst lumens. (b) Direct sequencing of the FLCN gene. The 5′-end of intron 9 was heterozygously mutated to adenine (arrow; c.1062 + 1G > A). A homozygous SNP was also detected (arrowhead; c.1062 + 6C > T). (c) RT-PCR of FLCN mRNA between exons 8–11. Two products were detected; a wild type (WT) and a mutant (Mut). (d) Western blotting of FLCN in the patient’s lung. Normal lung was used for comparison. The FLCN bands of 64 kDa were detected in both lanes. No additional band was observed in the BHD patient’s lung. (e) Sequence analysis of mutant RT-PCR product. Intron 9 (130 bp) retention was detected between exons 9–10

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