Proteomic Analysis of PTCH1+/− Fibroblast Lysate and Conditioned Culture Media Isolated from the Skin of Healthy Subjects and Nevoid Basal Cell Carcinoma Syndrome Patients

Table 1

Genetic and clinical characteristics of NBCCS affected patients.

Pts	Gene	Exon	Sequence involved	Domain	Mutation	BCC	Odontogenic ceratocystis	Pits	Falx cerebri calcification	Skeletal abnormalities	NBCCS affected relatives
1	PTCH	14	c.1987C>T [p.Q663X]	Intracellular loop 3	Stop	Yes	Yes	None	None	Yes	Yes
2	PTCH	9	c.1237C>T ht p.Q413X	Extracellular loop 1	Stop	Yes	Yes	Yes	Yes	Yes	Yes
3	PTCH	4	c.654 +2T>A	Extracellular loop 1	Splicing	Yes	Yes	None	None	None	Yes
4	PTCH	6	c.931dupA	Extracellular loop 1	Frameshift	Yes	Yes	None	None	None	Yes
5	PTCH	19	c.3277G>A; p.G1093R	Transmembrane 10	Missense	Yes	Yes	Yes	Yes	None	Yes
6	PTCH	10	c.1348 −2A>G ht	Transmembrane 3	Splicing	None	Yes	None	None	None	Yes
7	PTCH	—	Wilde type	—	—	Yes	None	None	None	None	None
8	PTCH	—	Wilde type	—	—	Yes	Yes	None	None	Yes	None

Legend BCC: basal cell carcinoma; NBCCS: nevoid basal cell carcinoma syndrome.