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

Figure 2

The clinic and genetic data of Family 2. (a) Pedigree of Family 2 affected with BHD. Squares indicate male family members; circles, female members; N/N normal type; N/M mutation type; arrow, proband. Pathological image of the renal mass. (b) Lung CT testing result of proband in Family 2. Red arrows indicate multiple pulmonary cysts. (c) Pathological image of the lung tissue. (d) Kidney contrast-enhanced CT testing result of proband in Family 2. Green arrows indicate renal tumor (right) or renal cyst (left). (e) Pathological image of the renal tumor tissue. (f) Sequencing results of the FLCN mutation in Family 2. Sequence chromatogram indicates an A deletion in nucleotide 668.

(a)

(b)

(c)

(d)

(e)

(f)