Table 2.

Clinical features in different groups of mutation types.

Clinical feature	Total (n = 73)	TSC1 (n = 19)	TSC2 (n = 49)	NMI (n = 5)	TSC1 vs. TSC2	NMI vs. Mut.
	No.	No.	No.	No.	P value	P value
Male	46 (63%)	14 (74%)	28 (57%)	4 (80%)	/	/
Female	27 (37%)	5 (26%)	21 (43%)	1 (20%)	/	/
Skin
Hypomelanotic macules	44 (60%)	12 (63%)	31 (63%)	1 (20%)	ns	0.015
Café-au-lait macules	9 (12%)	1 (5%)	7 (14%)	1 (20%)	ns	ns
Facial angiofibromas	4 (5%)	1 (5%)	3 (6%)	0 (0%)	ns	ns
Shagreen patch	4 (5%)	1 (5%)	3 (6%)	0 (0%)	ns	ns
Fibrous forehead plaque	1 (1%)	1 (5%)	0 (0%)	0 (0%)	ns	ns
CNS
Epileptic Seizure	62 (85%)	18 (95%)	41 (84%)	3 (60%)	ns	ns
Cortical tubers	34 (47%)	12 (63%)	20 (41%)	2 (40%)	ns	ns
Subependymal nodules	22 (30%)	6 (32%)	14 (29%)	2 (40%)	ns	ns
Intellectual disability	24 (33%)	6 (32%)	15 (31%)	3 (60%)	0.048	ns
Cardiovascular
Cardiac rhabdomyoma	11 (15%)	2 (11%)	9 (18%)	0 (0%)	ns	ns
Kidney
Multiple renal cysts	1 (1%)	0 (0%)	1 (2%)	0 (0%)	ns	ns
Ophthalmic
Retinal hypopigmented patches	2 (3%)	0 (0%)	2 (4%)	0 (0%)	ns	ns
Retinal hamartoma	1(1%)	0(0%)	1(2%)	0(0%)	ns	ns

“Mut.” refers to the mutation-positive group (TSC1 or TSC2).

Only statistically significant P values are shown; ns indicates P ≥ 0.05.

CNS, central nervous system; NMI, no mutation identified; ns, no statistically significant difference (P ≥ 0.05); TSC, tuberous sclerosis complex.