Table 1. Six major criteria by Kimonis and the PTCH1 mutation in the four study subjects with Gorlin syndrome.

case	birth date	sex	mutation	phenotype
				KCOT	BCC	skin pit	skeletal anomaly	calcification of the falx cerebri	family with Gorlin S
1	1953	M	frameshift: p.Leu446fs	+	+	+	+ (spinal deformity)	-	+
2	1987	M	splice_donor_variant: c.652G>A	+	+	-	-	-	+
3	1983	M	frameshift: p.Asp460fs	+	-	+	+ (rib anomaly)	+	+
4	1995	M	missense: p.Leu505Arg	+	-	-	-	-	+

The six major criteria include 1) more than 2 BCCs or one under the age of 20 years; 2) odontogenic keratocysts of the jaw proven by histology; 3) three or more palmar or plantar pits; 4) bilamellar calcification of the falx cerebri; 5) bifid, fused, or markedly splayed ribs; and 6) first degree relative with NBCC syndrome.