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.

PtsGeneExonSequence involvedDomainMutation BCCOdontogenic ceratocystisPits Falx cerebri calcificationSkeletal abnormalitiesNBCCS affected relatives

1PTCH14c.1987C>T [p.Q663X]
Intracellular loop 3StopYesYesNone NoneYes Yes
2PTCH9c.1237C>T ht p.Q413X
Extracellular loop 1StopYesYesYes Yes Yes Yes
3PTCH4c.654 +2T>AExtracellular loop 1
SplicingYes YesNone NoneNoneYes
4PTCH6c.931dupAExtracellular loop 1
FrameshiftYesYesNone NoneNoneYes
5PTCH19c.3277G>A; p.G1093R
Transmembrane 10MissenseYesYesYes Yes NoneYes
6PTCH10c.1348 −2A>G htTransmembrane 3SplicingNone YesNone NoneNoneYes
7PTCHWilde typeYesNoneNoneNoneNoneNone
8PTCHWilde typeYesYesNoneNoneYes None

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

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