Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome

Figure 1

The clinic and genetic data of Family 1. (a) Pedigree of Family 1 affected with BHD. Squares indicate male family members; circles, female members; N/N normal type; N/M mutation type; arrow, proband. (b) Lung CT testing result of proband in Family 1. Red arrows indicate multiple pulmonary cysts. (c) Kidney B ultrasonic testing results of proband in Family 1. The low echoic area indicates multiple renal cysts. (d) Skin eruptions in the posterior neck of proband in Family 1. (e) Sequencing results of the FLCN mutation in Family 1. Sequence chromatogram indicates an A insertion in nucleotide 1579.

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