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

Table 1

The clinic and genetic summary of these two families.

Family ID	Phenotype in family members				Mutation analysis
	Clinically affected	Skin eruptions	Renal tumors/cysts	Lung cysts/PSP	Gene	Exon	Nucleotide	Protein	Mutation type
1	Proband	Yes	Yes	Yes	FLCN	14	c.1579_1580insA	p.R527QfsX75	Insertion
1	Father	No	Yes	Yes
1	Elder sister	No	Yes	Yes
1	Sister	No	Yes	Yes
1	Nephew	Yes	Yes	No
2	Proband	No	Yes	Yes	FLCN	7	c.668delA	p.N223Tfs19	Deletion
2	Mother	No	Yes	Yes
2	Brother	No	No	Yes