BioMed Research International / 2013 / Article / Tab 1 / Research Article
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.