Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

BMC Medical Genetics

Table 1 Clinical overview of the TSC NMI individuals

Individual	Age	Brain	Skin	Other	Family members
I	13 yr; Dx0	CT	HM	CR	Parents (healthy)
II	13 yr; Dx2	SEN, CT	HM	CR, AML	Parents and sibling (mother and sibling affected)
III	14 yr; Dx4	SEN, CT	FA, HM	AML, RC, CR	Parents (healthy)
IV	9 yr; Dx8	SEGA, SEN, CT	FA, HM	AML, CR, RP	Parents (healthy; not investigated clinically)
V	8 yr; Dx3	SEN, CT	HM	AML	Parents (healthy)
VI	9 yr; Dx1	SEN, CT	FA, HM	AML, CR	Parents (healthy)
VII	46 yr; Dx15	WMA	FA, HM	TE	Child (affected)

Age and age at diagnosis (Dx) and the affection status of first degree relatives of the index cases (I - VII) are indicated, as well as the brain, skin and other clinical findings in the index cases. AML: angiomyolipoma; CR: cardiac rhabdomyoma; CT: cortical tuber; FA: facial angiofibroma; HM: hypomelanotic macule; RC: renal cysts; RP: retinal phakoma; SEGA: subependymal giant cell astrocytoma; SEN: subependymal nodule; SP: shagreen patch; TE: tooth enamel defect; UF: ungual fibroma; WMA: white matter abnormalities.

ISSN: 1471-2350