Table 1

Frequency of GS features in those with and without identified PTCH1 or SUFU mutations

Pathogenic variant	Pathogenic variant not found	SUFU	PTCH1	Missense PTCH1 variant	Other PTCH1 variant	Not tested	Total	PTCH1 versus no pathogenic variant	SUFU versus PTCH1 pathogenic variant	SUFU versus no mutation	Missense versus other PTCH1
Number	47	9	126	34	92	50	232
Female (%)	27 (57.4%)	7 (77.8%)	68 (54%)	18 (53%)	50 (54.3%)	19 (38%)		NS	NS	NS	NS
Median age	36	34	19	26	16	27
Mean age diagnosis	37.17	31.33	22.49	28.18	20.12			0.0008	NS	NS	0.03
Range	2–81	3–76	0.3–63	1–61	0.3–63	0.2–88
Median age last follow-up	47.2	42.4	45.1	47.6	42.4	42.1		NS	NS	NS	NS
Range	14.8–86	30–81	0.5–90	3.2–82	0.5–90	5.4–91
Familial cases	24	7	88	24	64	35	154
Single cases	23	2	38	10	28	15	78
% Single cases	48.94	22.22	30.16	29.41	30.43	30.00	33.62	0.02	NS	0.14	NS
Jaw cysts (JC)	16	0	79	18	61	22	117
No JC	31	9	47	16	31	28	115
% JC	34.04	0.00	62.70	52.94	66.30	44.00	50.43	0.002	0.0004	0.05	NS
>10 BCC	21	4	61	12	49	20	106
%	44.68	44.44	48.41	35.29	53.26	40.00	45.69	NS	0.1	NS	NS
>10 BCC+JC	10	0	47	9	38	9	66
%	21.28	0.00	37.30	26.47	41.30	18.00	28.45	0.05	0.03	NS	NS
≥20 BCC	12	2	35	5	30	9	51
%	25.53	22.22	27.78	14.71	32.61	18.00	21.98	NS	NS	NS	0.05
Age >30 years >50 BCC	6	1	16	2	14	5	28
Age >30 years	38	6	92	23	69	31	167
%	15.79	16.67	17.39	8.70	20.29	16.13	16.77	NS	NS	NS	NS
Presence of palmar pits	32	5	83	19	64	26	146
All assessed for pits	55	9	109	26	83	38	211
% Pits	58.18	55.56	76.15	73.08	77.11	68.42	69.19	0.05	NS	NS	NS
Meningioma	0	2	2	0	2	0	4
%	0.00	22.22	1.59	0.00	2.17	0.00	1.72	NS	0.02	0.02	NS
Falx calcification	28	9	71	11	60	19	127
No falx	14	0	22	7	15	9	45
%	66.67	100.00	76.34	61.11	80.00	67.86	73.84	0.29	NS	NS	NS
Bifid ribs	14	2	56	10	46	15	87
No bifid ribs	27	7	45	13	32	10	89
%	34.15	22.22	55.45	43.48	58.97	60.00	49.43	0.003	NS	NS	NS
Any skeletal abnormality	21	4	75	13	62	19	119
No skeletal abnormality	20	3	26	10	16	6	55
%	51.22	57.14	74.26	56.52	79.49	76.00	68.39	0.003	NS	NS	0.03
Medulloblastoma	0	3	3	0	3	1	7
%	0.00	33.33	2.38	0.00	3.26	2.00	3.02	NS	0.009	0.007	NS
Ovarian fibroma	4	3	4	0	4	4	15
No ovarian fibroma	23	4	64	18	46	19	110
%	14.81	42.86	5.88	0.00	8.00	17.39	12.00	NS	0.015	NS	NS
Cardiac fibroma	0	0	2	0	2	1	3
% Cardiac fibroma	0.00	0.00	1.59	0.00	2.17	2.00	1.29	NS	NS	NS	NS
Cleft lip/palate	1	0	6	0	6	0	7
%	2.13	0.00	4.76	0.00	6.52	0.00	3.02	NS	NS	NS	NS

BCC, basal cell carcinoma; GS, Gorlin syndrome; NS, not significant.