Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

BMC Medical Genetics

Table 6 Clinical data of patients with TSC2 mutations

Family no.	Familial/Sporadic	Mutation type	Sex	Onset age of seizure	Intellectual performance	Brain tubers	Renal tumors	Hepatic tumors	Cardiac rhabdomyoma	Hypomelanotic macules	Facial angiofibroma	Shagreen patch	Ungual fibroma
4	S	MM	M	10 m	N	+	+	0	0	+	+	+	0
5	S	MM	F	1 y	N	+	NA	NA	0	+	+	0	0
6	S	FS	M	1 m	LD	+	0	0	+	+	0	0	0
7	S	MM	M	6 m	MR	NA	NA	NA	NA	+	+	0	0
8	S	S	F	3 m	LD	+	+	0	0	+	+	+	0
9	S	FS	M	5 y	LD	+	0	0	0	+	+	+	0
10	S	FS	F	6 m	LD	+	0	0	+	+	+	0	0
11	F	FS	F	4 m	LD	+	+	0	+	0	+	+	0
12	S	NM	M	10 m	N	+	+	0	NA	+	+	+	0
13	S	FS	F	4 m	MR	+	NA	NA	+	0	0	0	0
15	F	MM	F	7 m	MR	+	0	0	0	+	0	0	0
16	S	FS	M	1 y	N	+	+	3	NA	+	+	+	+
18	S	FS	F	5 m	LD	+	NA	NA	NA	+	+	+	0
19	S	NM	M	3 m	MR	+	+	0	NA	+	0	0	0
20	S	NM	M	1 y 6 m	N	+	+	0	0	+	+	0	0
21	F	FS	F	9 y	N	+	+	1	0	+	+	+	+
22	F	FS	M	1 y	LD	NA	NA	NA	NA	+	+	+	0
23	S	NM	F	7 m	MR	+	NA	NA	NA	+	0	0	0
25	S	FS	M	6 m	LD	+	0	NA	0	+	+	+	0
26	S	FS	F	8 m	LD	+	+	0	0	+	+	+	0
27	S	NM	M	1 y	MR	+	+	0	0	+	+	0	0
28	S	NM	M	3 m	LD	+	NA	NA	NA	+	+	+	0
29	S	MM	F	6 m	MR	+	0	NA	0	+	0	+	0
30	S	FS	F	1 y	MR	+	+	0	0	+	+	0	0
32	S	NM	M	3 m	N	+	+	+	0	+	+	0	0
33	S	FS	F	1 m	N	+	+	+	0	+	+	+	+
34	S	MM	F	7 y	N	+	+	0	0	+	0	+	0
35	S	NM	M	1 y	MR	+	+	0	+	+	+	+	0
37	F	MM	M	9 m	MR	+	0	0	+	+	+	+	0
39	F	FS	F	3 m	MR	+	NA	NA	NA	+	+	+	0
42	F	MM	M	7 y	N	0	+	+	NA	+	+	+	+
47	S	FS	F	2 m	N	+	0	0	+	+	0	0	0
48	S	FS	F	3 m	MR	+	+	0	0	+	+	+	0
50	S	MM	M	3 m	MR	+	NA	NA	NA	+	+	+	0
53	S	FS	M	3 y	MR	+	+	0	0	+	+	+	0
56	F	MM	F	2 y	N	+	+	+	0	+	+	+	+
57	S	NM	F	6 m	MR	+	0	0	0	+	+	+	0
59	S	S	F	1 m	MR	+	+	0	0	+	+	0	0
64	S	NM	M	2 m	N	+	0	0	0	+	0	0	0
67	S	S	F	3 m	MR	+	0	0	+	+	+	0	0
73	S	S	F	21 y	N	+	0	0	0	+	+	0	+
75	S	NM	F	1 y	N	+	+	0	0	+	+	0	0
82	S	MM	M	1 m	N	0	0	0	+	0	0	0	0

N: normal or no seizure, LD: learning disorder, MR: metal retardation, NA: not available.

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