Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

BMC Medical Genetics

Table 5 Clinical data of patients with TSC1 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
2	F	FS	F	2 y	N	+	0	NA	NA	0	+	0	+
3	S	NM	M	8 y 3 m	N	+	0	0	0	+	+	+	0
41	S	NM	F	1 y	N	+	0	0	+	+	0	0	0
31	S	NM	F	6 m	LD	+	+	0	+	+	0	0	0
36	S	FS	M	2 y	N	+	0	0	0	+	+	0	0
61	F	NM	M	3 y 6 m	LD	+	0	0	0	+	+	0	0
62	S	FS	M	1 m	LD	+	+	0	0	+	+	+	+
72	S	FS	M	3 y	N	+	0	0	+	+	0	+	0

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

ISSN: 1471-2350