Fig. 3

Mutation analysis for patient 9–1. a A splicing mutation c.249 + 1G > A was detected in patient 9–1 and her mother. b RT-PCR of mRNA from patient 9–1 yielded an extra shorter band compared with control, indicating an aberrant transcript. c Sequencing result of the RT-PCR products showed a partial deletion of 125 bp in FLCN exon 4, resulting from the activation of a cryptic splice site within exon 4 (shown in green)